X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
SNOMED CT code
| SNOMED code | 732246009 |
|---|---|
| name | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) |
| synonyms | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Finding site | Skeletal muscle structure of right lower limb 744848003 |
| attributes - group8 | |
| Finding site | Structure of skeletal muscle of left upper limb 771252002 |
| attributes - group9 | |
| Finding site | Skeletal muscle structure of left lower limb 744847008 |
| attributes - group10 | |
| Finding site | Structure of skeletal muscle of right upper limb 771251009 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Neurohypophysis structure 37512009 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Retinal structure 5665001 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Leber's amaurosis 193413001 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Spastic syndrome 386781001 Spastic tetraparesis 298282001 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of purine and pyrimidine metabolism 238006008 Disorder of purine metabolism 32612005 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic disorder of transport 111394006 Diabetes insipidus 15771004 Familial diabetes insipidus 42021008 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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