| A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | SCTID | FSN | SemTag | Proximal Primitive Parent | is Intermediate | Defn Status | Stated Attributes | Stated Role Groups | Inferred Role Groups | Stated Parents | |||||||||
2 | 2312009 | Reactive attachment disorder of infancy OR early childhood, inhibited type (disorder) | (disorder) | 41526007 |Reactive attachment disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 41526007 |Reactive attachment disorder (disorder)| | |||||||||
3 | 763626009 | Intellectual disability due to nutritional deficiency (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 1 | 1 | 2 | [P] 110359009 |Intellectual disability (disorder)| | |||||||||
4 | 229705002 | Mixed acquired dyspraxia (disorder) | (disorder) | 268674003 |Developmental disorder of motor function (disorder)| | Yes | PRIMITIVE | 1 | 1 | 2 | [P] 268674003 |Developmental disorder of motor function (disorder)| | |||||||||
5 | 717880001 | Arteriovenous malformation of duodenum (disorder) | (disorder) | 64572001 |Disease (disorder)| | No | FULLY_DEFINED | 3 | 1 | 1 | [P] 64572001 |Disease (disorder)| | |||||||||
6 | 78468005 | Erb's muscular dystrophy (disorder) | (disorder) | 64572001 |Disease (disorder)| | No | PRIMITIVE | 4 | 2 | 2 | [P] 64572001 |Disease (disorder)| | |||||||||
7 | 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | (disorder) | 254274004 |Deletion of part of autosome (disorder)| | Yes | PRIMITIVE | 12 | 5 | 6 | [P] 68913001 |Alpha thalassemia (disorder)|, [P] 254274004 |Deletion of part of autosome (disorder)|, [P] 110359009 |Intellectual disability (disorder)| | |||||||||
8 | 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | (disorder) | 68913001 |Alpha thalassemia (disorder)| | Yes | PRIMITIVE | 12 | 5 | 6 | [P] 68913001 |Alpha thalassemia (disorder)|, [P] 254274004 |Deletion of part of autosome (disorder)|, [P] 110359009 |Intellectual disability (disorder)| | |||||||||
9 | 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 12 | 5 | 6 | [P] 68913001 |Alpha thalassemia (disorder)|, [P] 254274004 |Deletion of part of autosome (disorder)|, [P] 110359009 |Intellectual disability (disorder)| | |||||||||
10 | 784352007 | X-linked scapuloperoneal muscular dystrophy (disorder) | (disorder) | 128430005 |X-linked hereditary disease (disorder)| | No | PRIMITIVE | 4 | 2 | 2 | [P] 129620000 |Scapuloperoneal muscular dystrophy (disorder)|, [P] 128430005 |X-linked hereditary disease (disorder)| | |||||||||
11 | 784352007 | X-linked scapuloperoneal muscular dystrophy (disorder) | (disorder) | 129620000 |Scapuloperoneal muscular dystrophy (disorder)| | Yes | PRIMITIVE | 4 | 2 | 2 | [P] 129620000 |Scapuloperoneal muscular dystrophy (disorder)|, [P] 128430005 |X-linked hereditary disease (disorder)| | |||||||||
12 | 58263000 | Maroteaux-Lamy syndrome, severe form (disorder) | (disorder) | 69463008 |Maroteaux-Lamy syndrome (disorder)| | Yes | PRIMITIVE | 3 | 1 | 1 | [P] 69463008 |Maroteaux-Lamy syndrome (disorder)| | |||||||||
13 | 124748007 | Delayed adrenarche (disorder) | (disorder) | 123526007 |Delay in sexual development AND/OR puberty (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 123526007 |Delay in sexual development AND/OR puberty (disorder)| | |||||||||
14 | 237813007 | Constitutional delay of growth and puberty (disorder) | (disorder) | 400003000 |Delayed puberty (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 400003000 |Delayed puberty (disorder)| | |||||||||
15 | 870308001 | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) | (disorder) | 35919005 |Pervasive developmental disorder (disorder)| | Yes | PRIMITIVE | 6 | 4 | 5 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 248290002 |Developmental delay (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
16 | 870308001 | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) | (disorder) | 443265004 |Cognitive disorder (disorder)| | Yes | PRIMITIVE | 6 | 4 | 5 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 248290002 |Developmental delay (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
17 | 870308001 | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) | (disorder) | 62305002 |Disorder of language (disorder)| | Yes | PRIMITIVE | 6 | 4 | 5 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 248290002 |Developmental delay (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
18 | 870308001 | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) | (disorder) | 248290002 |Developmental delay (disorder)| | Yes | PRIMITIVE | 6 | 4 | 5 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 248290002 |Developmental delay (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
19 | 15673041000119101 | Congenital glaucoma of right eye (disorder) | (disorder) | 204113001 |Congenital glaucoma (disorder)| | Yes | FULLY_DEFINED | 3 | 1 | 1 | [P] 204113001 |Congenital glaucoma (disorder)| | |||||||||
20 | 707254000 | Amniotic adhesion (disorder) | (disorder) | 72860003 |Disorder of amniotic cavity AND/OR membrane (disorder)| | Yes | FULLY_DEFINED | 3 | 1 | 1 | [P] 72860003 |Disorder of amniotic cavity AND/OR membrane (disorder)| | |||||||||
21 | 870262000 | Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills (disorder) | (disorder) | 35919005 |Pervasive developmental disorder (disorder)| | Yes | PRIMITIVE | 4 | 2 | 2 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)| | |||||||||
22 | 870262000 | Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills (disorder) | (disorder) | 443265004 |Cognitive disorder (disorder)| | Yes | PRIMITIVE | 4 | 2 | 2 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)| | |||||||||
23 | 789187001 | X-linked acrogigantism due to Xq26 microduplication (disorder) | (disorder) | 773645004 |Familial infantile gigantism (disorder)| | Yes | PRIMITIVE | 9 | 4 | 4 | [P] 773645004 |Familial infantile gigantism (disorder)| | |||||||||
24 | 47916000 | Developmental arithmetic disorder (disorder) | (disorder) | 1855002 |Developmental academic disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 1855002 |Developmental academic disorder (disorder)| | |||||||||
25 | 230371005 | Type VI Cockayne Pelizaeus-Merzbacher disease (disorder) | (disorder) | 64855000 |Pelizaeus-Merzbacher disease (disorder)| | Yes | PRIMITIVE | 6 | 2 | 2 | [P] 64855000 |Pelizaeus-Merzbacher disease (disorder)| | |||||||||
26 | 716710007 | Early childhood developmental disability (disorder) | (disorder) | 64572001 |Disease (disorder)| | No | PRIMITIVE | 2 | 1 | 1 | [P] 64572001 |Disease (disorder)| | |||||||||
27 | 240077004 | Severe scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) | (disorder) | 85898001 |Cardiomyopathy (disorder)| | Yes | PRIMITIVE | 0 | 0 | 3 | [P] 129620000 |Scapuloperoneal muscular dystrophy (disorder)|, [P] 85898001 |Cardiomyopathy (disorder)| | |||||||||
28 | 240077004 | Severe scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) | (disorder) | 129620000 |Scapuloperoneal muscular dystrophy (disorder)| | Yes | PRIMITIVE | 0 | 0 | 3 | [P] 129620000 |Scapuloperoneal muscular dystrophy (disorder)|, [P] 85898001 |Cardiomyopathy (disorder)| | |||||||||
29 | 870280009 | Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder) | (disorder) | 35919005 |Pervasive developmental disorder (disorder)| | Yes | PRIMITIVE | 4 | 3 | 3 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
30 | 870280009 | Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder) | (disorder) | 62305002 |Disorder of language (disorder)| | Yes | PRIMITIVE | 4 | 3 | 3 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
31 | 240065009 | Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) | (disorder) | 240054004 |Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)| | Yes | PRIMITIVE | 5 | 2 | 2 | [P] 240054004 |Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)| | |||||||||
32 | 60258001 | Macular corneal dystrophy (disorder) | (disorder) | 85995004 |Autosomal recessive hereditary disorder (disorder)| | No | FULLY_DEFINED | 3 | 1 | 1 | [P] 85995004 |Autosomal recessive hereditary disorder (disorder)| | |||||||||
33 | 870303005 | Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills (disorder) | (disorder) | 35919005 |Pervasive developmental disorder (disorder)| | Yes | PRIMITIVE | 3 | 2 | 3 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
34 | 870303005 | Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills (disorder) | (disorder) | 62305002 |Disorder of language (disorder)| | Yes | PRIMITIVE | 3 | 2 | 3 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
35 | 26453000 | Mental disorder in adolescence (disorder) | (disorder) | 129104009 |Developmental mental disorder (disorder)| | Yes | FULLY_DEFINED | 2 | 1 | 1 | [P] 129104009 |Developmental mental disorder (disorder)| | |||||||||
36 | 698947004 | Conduct disorder in remission (disorder) | (disorder) | 430909002 |Conduct disorder (disorder)| | Yes | FULLY_DEFINED | 0 | 0 | 1 | [P] 430909002 |Conduct disorder (disorder)|, [P] 765205004 |Disorder in remission (disorder)| | |||||||||
37 | 698947004 | Conduct disorder in remission (disorder) | (disorder) | 765205004 |Disorder in remission (disorder)| | No | FULLY_DEFINED | 0 | 0 | 1 | [P] 430909002 |Conduct disorder (disorder)|, [P] 765205004 |Disorder in remission (disorder)| | |||||||||
38 | 73297009 | Muscular dystrophy (disorder) | (disorder) | 64572001 |Disease (disorder)| | No | FULLY_DEFINED | 4 | 2 | 2 | [P] 64572001 |Disease (disorder)| | |||||||||
39 | 192119003 | Sibling jealousy (disorder) | (disorder) | 231540008 |Conduct disorder - in family context (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 231540008 |Conduct disorder - in family context (disorder)| | |||||||||
40 | 192132008 | Hyperkinetic conduct disorder (disorder) | (disorder) | 406506008 |Attention deficit hyperactivity disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 2 | [P] 406506008 |Attention deficit hyperactivity disorder (disorder)| | |||||||||
41 | 870267006 | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills (disorder) | (disorder) | 35919005 |Pervasive developmental disorder (disorder)| | Yes | PRIMITIVE | 6 | 3 | 4 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
42 | 870267006 | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills (disorder) | (disorder) | 443265004 |Cognitive disorder (disorder)| | Yes | PRIMITIVE | 6 | 3 | 4 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
43 | 870267006 | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills (disorder) | (disorder) | 62305002 |Disorder of language (disorder)| | Yes | PRIMITIVE | 6 | 3 | 4 | [P] 35919005 |Pervasive developmental disorder (disorder)|, [P] 443265004 |Cognitive disorder (disorder)|, [P] 62305002 |Disorder of language (disorder)| | |||||||||
44 | 216693007 | Hypothyroid dwarfism (disorder) | (disorder) | 40930008 |Hypothyroidism (disorder)| | Yes | FULLY_DEFINED | 2 | 1 | 1 | [P] 237836003 |Short stature disorder (disorder)|, [P] 40930008 |Hypothyroidism (disorder)| | |||||||||
45 | 216693007 | Hypothyroid dwarfism (disorder) | (disorder) | 237836003 |Short stature disorder (disorder)| | Yes | FULLY_DEFINED | 2 | 1 | 1 | [P] 237836003 |Short stature disorder (disorder)|, [P] 40930008 |Hypothyroidism (disorder)| | |||||||||
46 | 430099007 | Gross motor development delay (disorder) | (disorder) | 268674003 |Developmental disorder of motor function (disorder)| | Yes | PRIMITIVE | 2 | 2 | 2 | [P] 268674003 |Developmental disorder of motor function (disorder)|, [P] 248290002 |Developmental delay (disorder)| | |||||||||
47 | 430099007 | Gross motor development delay (disorder) | (disorder) | 248290002 |Developmental delay (disorder)| | Yes | PRIMITIVE | 2 | 2 | 2 | [P] 268674003 |Developmental disorder of motor function (disorder)|, [P] 248290002 |Developmental delay (disorder)| | |||||||||
48 | 724739009 | Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder) | (disorder) | 762347009 |Childhood onset conduct-dissocial disorder (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 762347009 |Childhood onset conduct-dissocial disorder (disorder)| | |||||||||
49 | 702815001 | Attention deficit hyperactivity disorder, inattentive presentation (restrictive) (disorder) | (disorder) | 406506008 |Attention deficit hyperactivity disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 2 | [P] 406506008 |Attention deficit hyperactivity disorder (disorder)| | |||||||||
50 | 762500001 | Nutritional stunting in childhood (disorder) | (disorder) | 237836003 |Short stature disorder (disorder)| | Yes | FULLY_DEFINED | 2 | 2 | 3 | [SD] 302869005 |Nutritional stunting (disorder)| | |||||||||
51 | 762500001 | Nutritional stunting in childhood (disorder) | (disorder) | 2492009 |Nutritional disorder (disorder)| | No | FULLY_DEFINED | 2 | 2 | 3 | [SD] 302869005 |Nutritional stunting (disorder)| | |||||||||
52 | 230779009 | Congenital spastic foot (disorder) | (disorder) | 307324001 |Spastic foot (finding)| | Yes | PRIMITIVE | 5 | 2 | 2 | [P] 307324001 |Spastic foot (finding)|, [P] 64572001 |Disease (disorder)| | |||||||||
53 | 230779009 | Congenital spastic foot (disorder) | (disorder) | 64572001 |Disease (disorder)| | No | PRIMITIVE | 5 | 2 | 2 | [P] 307324001 |Spastic foot (finding)|, [P] 64572001 |Disease (disorder)| | |||||||||
54 | 229700007 | Developmental motor speech disorder (disorder) | (disorder) | 1145003 |Developmental speech disorder (disorder)| | Yes | PRIMITIVE | 0 | 0 | 3 | [P] 1145003 |Developmental speech disorder (disorder)|, [P] 268674003 |Developmental disorder of motor function (disorder)| | |||||||||
55 | 229700007 | Developmental motor speech disorder (disorder) | (disorder) | 268674003 |Developmental disorder of motor function (disorder)| | Yes | PRIMITIVE | 0 | 0 | 3 | [P] 1145003 |Developmental speech disorder (disorder)|, [P] 268674003 |Developmental disorder of motor function (disorder)| | |||||||||
56 | 62221000119105 | Severe expressive language delay (disorder) | (disorder) | 229734008 |Expressive language delay (disorder)| | Yes | PRIMITIVE | 0 | 0 | 3 | [P] 229734008 |Expressive language delay (disorder)| | |||||||||
57 | 247531004 | Delayed growth of secondary sexual hair (disorder) | (disorder) | 366659009 |Finding of secondary sexual hair growth (finding)| | Yes | PRIMITIVE | 3 | 2 | 2 | [P] 123526007 |Delay in sexual development AND/OR puberty (disorder)|, [P] 366659009 |Finding of secondary sexual hair growth (finding)| | |||||||||
58 | 247531004 | Delayed growth of secondary sexual hair (disorder) | (disorder) | 123526007 |Delay in sexual development AND/OR puberty (disorder)| | Yes | PRIMITIVE | 3 | 2 | 2 | [P] 123526007 |Delay in sexual development AND/OR puberty (disorder)|, [P] 366659009 |Finding of secondary sexual hair growth (finding)| | |||||||||
59 | 700371004 | On examination - neurodevelopmental disorder (disorder) | (disorder) | 700364009 |Neurodevelopmental disorder (disorder)| | Yes | FULLY_DEFINED | 0 | 0 | 3 | [P] 700364009 |Neurodevelopmental disorder (disorder)|, [SD] 271880003 |On examination - specified examination finding (finding)| | |||||||||
60 | 724738001 | Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder) | (disorder) | 762347009 |Childhood onset conduct-dissocial disorder (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 762347009 |Childhood onset conduct-dissocial disorder (disorder)| | |||||||||
61 | 702732007 | High-functioning autism (disorder) | (disorder) | 408856003 |Autistic disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 408856003 |Autistic disorder (disorder)| | |||||||||
62 | 768677000 | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 110359009 |Intellectual disability (disorder)| | |||||||||
63 | 472853005 | Stenosis of fetal common atrioventricular valve (disorder) | (disorder) | 64572001 |Disease (disorder)| | No | FULLY_DEFINED | 4 | 1 | 1 | [P] 64572001 |Disease (disorder)| | |||||||||
64 | 74850006 | Conduct disorder, solitary aggressive type (disorder) | (disorder) | 430909002 |Conduct disorder (disorder)| | Yes | PRIMITIVE | 0 | 0 | 1 | [P] 430909002 |Conduct disorder (disorder)| | |||||||||
65 | 363094008 | Disorders with tall stature (disorder) | (disorder) | 237834000 |Disorder of stature (disorder)| | Yes | PRIMITIVE | 0 | 0 | 1 | [P] 237834000 |Disorder of stature (disorder)| | |||||||||
66 | 30509009 | Gender identity disorder of adolescence, previously homosexual (disorder) | (disorder) | 57715001 |Gender identity disorder of adolescence (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 57715001 |Gender identity disorder of adolescence (disorder)| | |||||||||
67 | 431038007 | Short stature due to radiation therapy (disorder) | (disorder) | 237836003 |Short stature disorder (disorder)| | Yes | FULLY_DEFINED | 0 | 0 | 3 | [SD] 20558004 |Adverse effect of radiation therapy (disorder)|, [P] 237836003 |Short stature disorder (disorder)| | |||||||||
68 | 431038007 | Short stature due to radiation therapy (disorder) | (disorder) | 281647001 |Adverse reaction (disorder)| | No | FULLY_DEFINED | 0 | 0 | 3 | [SD] 20558004 |Adverse effect of radiation therapy (disorder)|, [P] 237836003 |Short stature disorder (disorder)| | |||||||||
69 | 133221000119100 | Idiopathic short stature (disorder) | (disorder) | 237836003 |Short stature disorder (disorder)| | Yes | FULLY_DEFINED | 1 | 1 | 1 | [P] 41969006 |Idiopathic disease (disorder)|, [P] 237836003 |Short stature disorder (disorder)| | |||||||||
70 | 133221000119100 | Idiopathic short stature (disorder) | (disorder) | 41969006 |Idiopathic disease (disorder)| | No | FULLY_DEFINED | 1 | 1 | 1 | [P] 41969006 |Idiopathic disease (disorder)|, [P] 237836003 |Short stature disorder (disorder)| | |||||||||
71 | 3914008 | Mental disorder in childhood (disorder) | (disorder) | 129104009 |Developmental mental disorder (disorder)| | Yes | FULLY_DEFINED | 2 | 1 | 1 | [P] 129104009 |Developmental mental disorder (disorder)| | |||||||||
72 | 77287004 | Borderline intellectual disability (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 110359009 |Intellectual disability (disorder)| | |||||||||
73 | 403813005 | Localized congenital cutis laxa (disorder) | (disorder) | 58588007 |Cutis laxa (disorder)| | Yes | PRIMITIVE | 1 | 1 | 2 | [SD] 254220005 |Inherited cutis laxa (disorder)| | |||||||||
74 | 403813005 | Localized congenital cutis laxa (disorder) | (disorder) | 32895009 |Hereditary disease (disorder)| | No | PRIMITIVE | 1 | 1 | 2 | [SD] 254220005 |Inherited cutis laxa (disorder)| | |||||||||
75 | 237614004 | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder) | (disorder) | 237837007 |Primordial dwarfism (disorder)| | Yes | PRIMITIVE | 0 | 0 | 1 | [P] 237837007 |Primordial dwarfism (disorder)| | |||||||||
76 | 191690004 | Residual infantile autism (disorder) | (disorder) | 39951000119105 |Pervasive developmental disorder of residual state (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 408856003 |Autistic disorder (disorder)|, [P] 39951000119105 |Pervasive developmental disorder of residual state (disorder)| | |||||||||
77 | 191690004 | Residual infantile autism (disorder) | (disorder) | 408856003 |Autistic disorder (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 408856003 |Autistic disorder (disorder)|, [P] 39951000119105 |Pervasive developmental disorder of residual state (disorder)| | |||||||||
78 | 191689008 | Active infantile autism (disorder) | (disorder) | 408856003 |Autistic disorder (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 408856003 |Autistic disorder (disorder)| | |||||||||
79 | 425805004 | Cognitive developmental delay (disorder) | (disorder) | 443265004 |Cognitive disorder (disorder)| | Yes | FULLY_DEFINED | 4 | 2 | 2 | [P] 443265004 |Cognitive disorder (disorder)|, [P] 248290002 |Developmental delay (disorder)| | |||||||||
80 | 425805004 | Cognitive developmental delay (disorder) | (disorder) | 248290002 |Developmental delay (disorder)| | Yes | FULLY_DEFINED | 4 | 2 | 2 | [P] 443265004 |Cognitive disorder (disorder)|, [P] 248290002 |Developmental delay (disorder)| | |||||||||
81 | 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | (disorder) | 60342002 |Movement disorder (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 85995004 |Autosomal recessive hereditary disorder (disorder)|, [P] 250067008 |Truncal ataxia (finding)|, [P] 110359009 |Intellectual disability (disorder)|, [P] 224958001 |Global developmental delay (disorder)|, [P] 60342002 |Movement disorder (disorder)| | |||||||||
82 | 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | (disorder) | 85995004 |Autosomal recessive hereditary disorder (disorder)| | No | PRIMITIVE | 2 | 1 | 1 | [P] 85995004 |Autosomal recessive hereditary disorder (disorder)|, [P] 250067008 |Truncal ataxia (finding)|, [P] 110359009 |Intellectual disability (disorder)|, [P] 224958001 |Global developmental delay (disorder)|, [P] 60342002 |Movement disorder (disorder)| | |||||||||
83 | 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | (disorder) | 250067008 |Truncal ataxia (finding)| | No | PRIMITIVE | 2 | 1 | 1 | [P] 85995004 |Autosomal recessive hereditary disorder (disorder)|, [P] 250067008 |Truncal ataxia (finding)|, [P] 110359009 |Intellectual disability (disorder)|, [P] 224958001 |Global developmental delay (disorder)|, [P] 60342002 |Movement disorder (disorder)| | |||||||||
84 | 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | (disorder) | 224958001 |Global developmental delay (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 85995004 |Autosomal recessive hereditary disorder (disorder)|, [P] 250067008 |Truncal ataxia (finding)|, [P] 110359009 |Intellectual disability (disorder)|, [P] 224958001 |Global developmental delay (disorder)|, [P] 60342002 |Movement disorder (disorder)| | |||||||||
85 | 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 85995004 |Autosomal recessive hereditary disorder (disorder)|, [P] 250067008 |Truncal ataxia (finding)|, [P] 110359009 |Intellectual disability (disorder)|, [P] 224958001 |Global developmental delay (disorder)|, [P] 60342002 |Movement disorder (disorder)| | |||||||||
86 | 192138007 | Developmental dyslexia (disorder) | (disorder) | 59770006 |Dyslexia (finding)| | No | PRIMITIVE | 1 | 1 | 1 | [P] 700364009 |Neurodevelopmental disorder (disorder)|, [P] 59770006 |Dyslexia (finding)| | |||||||||
87 | 192138007 | Developmental dyslexia (disorder) | (disorder) | 700364009 |Neurodevelopmental disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 700364009 |Neurodevelopmental disorder (disorder)|, [P] 59770006 |Dyslexia (finding)| | |||||||||
88 | 772086000 | Disproportionate short stature (disorder) | (disorder) | 237836003 |Short stature disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 237836003 |Short stature disorder (disorder)| | |||||||||
89 | 359661001 | Specific number difficulty (disorder) | (disorder) | 1855002 |Developmental academic disorder (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 1855002 |Developmental academic disorder (disorder)| | |||||||||
90 | 698689005 | Attention deficit hyperactivity disorder, predominantly inattentive type in remission (disorder) | (disorder) | 35253001 |Attention deficit hyperactivity disorder, predominantly inattentive type (disorder)| | Yes | FULLY_DEFINED | 1 | 1 | 2 | [P] 35253001 |Attention deficit hyperactivity disorder, predominantly inattentive type (disorder)|, [P] 765205004 |Disorder in remission (disorder)| | |||||||||
91 | 698689005 | Attention deficit hyperactivity disorder, predominantly inattentive type in remission (disorder) | (disorder) | 765205004 |Disorder in remission (disorder)| | No | FULLY_DEFINED | 1 | 1 | 2 | [P] 35253001 |Attention deficit hyperactivity disorder, predominantly inattentive type (disorder)|, [P] 765205004 |Disorder in remission (disorder)| | |||||||||
92 | 768473009 | Purine rich element binding protein A syndrome (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 110359009 |Intellectual disability (disorder)|, [P] 91175000 |Seizure (finding)| | |||||||||
93 | 768473009 | Purine rich element binding protein A syndrome (disorder) | (disorder) | 91175000 |Seizure (finding)| | Yes | PRIMITIVE | 2 | 1 | 1 | [P] 110359009 |Intellectual disability (disorder)|, [P] 91175000 |Seizure (finding)| | |||||||||
94 | 19911007 | Precocious female puberty (disorder) | (disorder) | 23886002 |Female puberty disorder (disorder)| | Yes | FULLY_DEFINED | 3 | 1 | 1 | [P] 400179000 |Precocious puberty (disorder)|, [P] 23886002 |Female puberty disorder (disorder)| | |||||||||
95 | 19911007 | Precocious female puberty (disorder) | (disorder) | 400179000 |Precocious puberty (disorder)| | Yes | FULLY_DEFINED | 3 | 1 | 1 | [P] 400179000 |Precocious puberty (disorder)|, [P] 23886002 |Female puberty disorder (disorder)| | |||||||||
96 | 702383005 | Distal myopathy 2 (disorder) | (disorder) | 445424004 |Weakness of vocal cord (finding)| | Yes | PRIMITIVE | 6 | 3 | 3 | [P] 445424004 |Weakness of vocal cord (finding)|, [P] 58795000 |Distal muscular dystrophy (disorder)|, [P] 11164009 |Autosomal dominant hereditary disorder (disorder)| | |||||||||
97 | 702383005 | Distal myopathy 2 (disorder) | (disorder) | 11164009 |Autosomal dominant hereditary disorder (disorder)| | No | PRIMITIVE | 6 | 3 | 3 | [P] 445424004 |Weakness of vocal cord (finding)|, [P] 58795000 |Distal muscular dystrophy (disorder)|, [P] 11164009 |Autosomal dominant hereditary disorder (disorder)| | |||||||||
98 | 702383005 | Distal myopathy 2 (disorder) | (disorder) | 58795000 |Distal muscular dystrophy (disorder)| | Yes | PRIMITIVE | 6 | 3 | 3 | [P] 445424004 |Weakness of vocal cord (finding)|, [P] 58795000 |Distal muscular dystrophy (disorder)|, [P] 11164009 |Autosomal dominant hereditary disorder (disorder)| | |||||||||
99 | 702412005 | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) | (disorder) | 128430005 |X-linked hereditary disease (disorder)| | No | PRIMITIVE | 1 | 1 | 1 | [P] 110359009 |Intellectual disability (disorder)|, [P] 128430005 |X-linked hereditary disease (disorder)| | |||||||||
100 | 702412005 | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) | (disorder) | 110359009 |Intellectual disability (disorder)| | Yes | PRIMITIVE | 1 | 1 | 1 | [P] 110359009 |Intellectual disability (disorder)|, [P] 128430005 |X-linked hereditary disease (disorder)| |