Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004
SNOMED CT code
| SNOMED code | 782782004 |
|---|---|
| name | Autosomal recessive spondylometaphyseal dysplasia Megarbane type |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) |
| synonyms | Autosomal recessive spondylometaphyseal dysplasia Megarbane type |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Bone structure of extremity 48566001 |
| attributes - group2 | |
| 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 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Rhizomelic dysplasia 1263463009 Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondylometaphyseal dysplasia 784006008 Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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