OMOP Concept 4148874
Aplasia cutis congenita
StandardConditionSNOMED35484002Disorder
Maps from
4
Descendants
20
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Aplasia cutis congenita via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 148529 | Aplasia cutis congenita | Non-standard |
| HPO | HP_0001057 | Aplasia cutis congenita | Non-standard |
| HPO | HP_0007383 | Congenital localized absence of skin | Non-standard |
| HPO | HP_0007506 | Congenital absence of skin of limbs | Non-standard |
Synonyms
Alternative names recorded for Aplasia cutis congenita across source vocabularies.
- ACC - Aplasia cutis congenita
- Aplasia cutis congenita (disorder)
- aplasia de cutis
- aplasia de cutis congénita
- aplasia de cutis congénita (trastorno)
- Congenital absence of skin
- Cutis aplasia
- epiteliogénesis imperfecta
- Epitheliogenesis imperfecta
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(19)Roll up to these when you need a wider cohort.
- 1Aplasia of skin
- 1Congenital anomaly of skin
- 2Congenital anomaly of integument
- 2Disorder of skin
- 3Congenital malformation
- 3Disorder of skin and/or subcutaneous tissue
- 3Fetal and/or neonatal disorder of integument
- 3Skin finding
- 4Congenital disease
- 4Developmental disorder
- 4Disorder of integument
- 4Disorder of soft tissue
- 4Fetal and/or neonatal disorder
- 4General finding of soft tissue
- 4Integumentary system finding
- 4Skin AND/OR mucosa finding
- 5Clinical finding
- 5Disease
- 5Disorder of body system
Narrower concepts
(20)Included automatically when you query with descendants.
- 1Adams-Oliver syndrome
- 1Aplasia cutis congenita associated with fetus papyraceus (Type 5)
- 1Aplasia cutis congenita due to teratogenic drug (Type 7)
- 1Aplasia cutis congenita due to underlying malformation (Type 4)
- 1Aplasia cutis congenita following intra-uterine infection (Type 8)
- 1Aplasia cutis congenita in association with epidermolysis bullosa (Type 6)
- 1Aplasia cutis congenita of limb
- 1Aplasia cutis congenita secondary to malformation syndrome (Type 9)
- 1Aplasia cutis congenita with epibulbar dermoid syndrome
- 1Aplasia cutis congenita with intestinal lymphangiectasia syndrome
- 1Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn)
- 1Aplasia cutis in Johanson-Blizzard syndrome
- 1Aplasia cutis in Trisomy 13 syndrome
- 1Aplasia cutis with myopia syndrome
- 1Congenital absence of skin on scalp
- 1Congenital absence of skin on scalp with epidermal nevi
- 1Didymosis aplasticosebacea
- 1SCALP syndrome
- 2Oculocerebrocutaneous syndrome
- 2Recessive aplasia cutis congenita of limbs
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