Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008
SNOMED CT code
| SNOMED code | 773300008 |
|---|---|
| name | Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Hypoplasia 55199003 |
| Finding site | Hair structure 386045008 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure of extremity 48566001 |
| attributes - group4 | |
| Interprets | Limb length 164835000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group3 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| 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 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Rhizomelic dysplasia 1263463009 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Metaphyseal chondrodysplasia 28681006 Spondyloepimetaphyseal disorder 254062008 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Congenital anomaly of integument 38164009 Congenital anomaly of skin 199879009 Congenital anomaly of hair 65033000 Congenital hypotrichia 56558005 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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