Aase Smith type 1 syndrome 718576001
SNOMED CT code
| SNOMED code | 718576001 |
|---|---|
| name | Aase Smith type 1 syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Hydrocephalus with cleft palate and joint contracture syndrome (disorder) |
| synonyms |
|
| attributes - group7 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Fourth ventricle structure 35918002 |
| Associated morphology | Cystic dilatation 125269003 |
| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Congenital malrotation 48641006 |
| Finding site | Cerebellar vermis structure 58501004 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Occurrence | Congenital 255399007 |
| Finding site | Palatal structure 72914001 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Contracture 57048009 |
| Finding site | Structure of joint region 785818007 |
| attributes - group6 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebellar vermis structure 58501004 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group3 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| attributes - group8 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Cystic dilatation 125269003 |
| Occurrence | Congenital 255399007 |
| Finding site | Infratentorial brain structure 21031007 |
| attributes - group9 | |
| Interprets | Range of joint movement 364564000 |
| Has interpretation | Decreased 1250004 |
| attributes - group10 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Finding site | Bone structure of head 272679001 |
| Occurrence | Congenital 255399007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Lesion of brain 301766008 Cystic malformation of posterior fossa 35111000119109 Dandy-Walker syndrome 14447001 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Congenital anomaly of head 87290003 Congenital abnormality of skull and face bones 268239009 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Inherited arthrogryposis 28204005 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Aase Smith type 1 syndrome 718576001 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 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Movement disorder 60342002 Extrapyramidal disease 76349003 Aase Smith type 1 syndrome 718576001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Orofacial cleft 449790007 Cleft palate 87979003 Aase Smith type 1 syndrome 718576001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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