Allan-Herndon-Dudley syndrome 702327009
SNOMED CT code
| SNOMED code | 702327009 |
|---|---|
| name | Allan-Herndon-Dudley syndrome |
| status | active |
| date introduced | 2014-07-31 |
| fully specified name(s) | Monocarboxylate transporter 8 deficiency (disorder) |
| synonyms |
|
| attributes - group1 | |
| Finding site | Spinal cord structure 2748008 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Thyroid structure 69748006 |
| attributes - group7 | |
| Clinical course | Progressive 255314001 |
| attributes - group3 | |
| Interprets | Muscle tone 6918002 |
| Has interpretation | Decreased 1250004 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group8 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group9 | |
| Interprets | Movement 255324009 |
| attributes - group6 | |
| Finding site | Right lower extremity structure 62175007 |
| attributes - group10 | |
| Finding site | Left lower extremity structure 32153003 |
| attributes - group11 | |
| Interprets | Movement observable 363847004 |
| Has interpretation | Absent 2667000 |
| parents |
|
| 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 Allan-Herndon-Dudley syndrome 702327009 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 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Muscle tone - finding 366725004 Decreased muscle tone 398151007 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Poor muscle tone 398152000 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hypothyroidism 190268003 Thyroid hormone responsiveness defect 50375007 Allan-Herndon-Dudley syndrome 702327009 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 hereditary spastic paraplegia 724775006 Allan-Herndon-Dudley syndrome 702327009 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Allan-Herndon-Dudley syndrome 702327009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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