L1 syndrome 716996008
SNOMED CT code
| SNOMED code | 716996008 |
|---|---|
| name | L1 syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Brain cerebrospinal fluid pathway 280371009 |
| Associated morphology | Dilatation 25322007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Hypoplasia 55199003 |
| Occurrence | Congenital 255399007 |
| Finding site | Corpus callosum structure 88442005 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| children |
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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 L1 syndrome 716996008 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 L1 syndrome 716996008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Leukoencephalopathy 22811006 Congenital malformation of corpus callosum 204042007 Hypoplasia of corpus callosum 204043002 L1 syndrome 716996008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 L1 syndrome 716996008 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 L1 syndrome 716996008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 L1 syndrome 716996008 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Hydrocephalus 230745008 Congenital hydrocephalus 47032000 L1 syndrome 716996008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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