OMOP Concept 4298801
Metaphyseal chondrodysplasia, McKusick type
StandardConditionSNOMED7720002Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Metaphyseal chondrodysplasia, McKusick type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 134251 | Metaphyseal chondrodysplasia, McKusick type | Non-standard |
| MeSH | C535916 | Cartilage-hair hypoplasia | Non-standard |
| Nebraska Lexicon | 7720002 | Cartilage-hair hypoplasia syndrome | Non-standard |
Synonyms
Alternative names recorded for Metaphyseal chondrodysplasia, McKusick type across source vocabularies.
- Cartilage-hair hypoplasia syndrome
- Cartilage hair syndrome
- condrodisplasia metafisaria, tipo McKusick
- condrodisplasia metafisaria, tipo McKusick (trastorno)
- Metaphyseal chondrodysplasia, McKusick type (disorder)
- síndrome de hipoplasia cartílago - pelo
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(40)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of cartilage
- 1Connective tissue hereditary disorder
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Metaphyseal chondrodysplasia
- 1Osteochondropathy
- 2Autosomal hereditary disorder
- 2Cartilage disorder
- 2Congenital anomaly of musculoskeletal system
- 2Congenital anomaly of skeletal bone
- 2Congenital connective tissue disorder
- 2Congenital malformation syndromes associated with short stature
- 2Developmental disorder
- 2Disorder of bone
- 2Disorder of connective tissue
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Skeletal dysplasia
- 3Bone finding
- 3Cartilage finding
- 3Congenital disease
- 3Congenital malformation
- 3Congenital malformation syndrome
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