OMOP Concept 36714237
Microcephalus with albinism and digital anomaly syndrome
StandardConditionSNOMED719377004Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Microcephalus with albinism and digital anomaly syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537322 | Microcephaly albinism digital anomalies syndrome | Non-standard |
Synonyms
Alternative names recorded for Microcephalus with albinism and digital anomaly syndrome across source vocabularies.
- Castro Gago Pombo Novo syndrome
- Microcephalus with albinism and digital anomaly syndrome (disorder)
- Microcephaly with albinism and digital anomaly syndrome
- síndrome de microcefalia con albinismo y anomalía digital
- síndrome de microcefalia con albinismo y anomalía digital (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(75)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of digit
- 1Congenital anomaly of jaw
- 1Congenital microcephaly
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 1Oculocutaneous albinism
- 2Albinism
- 2Autosomal recessive hereditary disorder
- 2Congenital anomaly of head
- 2Congenital anomaly of limb
- 2Congenital oculocutaneous hypopigmentation
- 2Disorder of digit
- 2Disorder of jaw
- 2Genetic disorder of skin pigmentation
- 2Hereditary disorder of the integument
- 2Hereditary disorder of the visual system
- 2Microcephaly
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
- 3Autosomal hereditary disorder
- 3Congenital anomaly of eye
- 3Congenital anomaly of face
- 3Congenital deficiency of pigment of skin
- 3Congenital malformation
- 3Developmental hereditary disorder
- 3Disorder of head
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