OMOP Concept 4241728
Menkes kinky-hair syndrome
StandardConditionSNOMED59178007Disorder
Maps from
6
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
6 source codes normalize to Menkes kinky-hair syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 115824 | Menke's Encephalopathy | Non-standard |
| MeSH | D007706 | Menkes Kinky Hair Syndrome | Non-standard |
| Nebraska Lexicon | 59178007 | Copper transport disease | Non-standard |
| Read | PKy9200 | Menke's syndrome | Non-standard |
| Read | PKy9211 | Kinky hair syndrome | Non-standard |
| Read | PKy9212 | Congenital kinking hair | Non-standard |
Synonyms
Alternative names recorded for Menkes kinky-hair syndrome across source vocabularies.
- Congenital hypocupraemia
- Congenital hypocupremia
- Copper transport disease
- deficiencia de cobre ligada al cromosoma X
- enfermedad del transporte del cobre
- enfermedad de Menkes
- enfermedad de Menkes del pelo encrespado
- enfermedad de Menkes del pelo encrespado (trastorno)
- hipocupremia congénita
- Kinky hair disease
- Menkes disease
- Menke's kinky hair syndrome
- Menkes kinky-hair syndrome (disorder)
- Menkes syndrome
- MK - Menkes syndrome
- MNK - Menkes syndrome
- síndrome del pelo acerado
- Steely hair disease
- Steely hair syndrome
- Trichopoliodystrophy
- tricopoliodistrofia
- X-linked copper deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(56)Roll up to these when you need a wider cohort.
- 1Collagen and elastic tissue disorders affecting skin
- 1Degenerative disorder
- 1Developmental hereditary disorder
- 1Disorder involving the integument of fetus OR newborn
- 1Disorder of copper metabolism
- 1Disorder of hair
- 1Dysplasia with decreased bone density
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of nervous system
- 1Hereditary disorder of the integument
- 1Metabolic bone disease
- 1System disorder of the nervous system
- 1X-linked recessive hereditary disease
- 2Bone density below reference range
- 2Congenital anomaly of skeletal bone
- 2Developmental disorder
- 2Disease
- 2Disorder of bone
- 2Disorder of fetus and/or newborn
- 2Disorder of integument
- 2Disorder of mineral metabolism
- 2Disorder of musculoskeletal system
- 2Disorder of nervous system
- 2Disorder of skin
- 2Disorder of skin appendage
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