aplasia cutis congenita of limbs recessive

Preferred Label : aplasia cutis congenita of limbs recessive;

MeSH synonym : recessive aplasia cutis congenita of the limbs; congenital absence of skin on the upper or lower limbs; aplasia cutis congenita of limbs, recessive;

Details

Origin ID

C536840;

UMLS CUI

C1838206;

Currated CISMeF NLP mapping
- Aplasia cutis congenita of limbs [ICD-11 More detail]
- Aplasia cutis congenita of limbs, autosomal recessive [OMIM Phenotype]
- Autosomal recessive aplasia cutis congenita of limb (disorder) [SNOMED CT concept]
- Recessive aplasia cutis congenita of limbs [ORDO Disease]
MeSH term(s) associated for indexing
- choanal atresia [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
ORDO relation(s)
- Aplasia cutis congenita [ORDO Disease]
- Recessive aplasia cutis congenita of limbs [ORDO Disease]
Record concept(s)
- Aplasia cutis congenita of limbs recessive [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia cutis congenita of limbs, autosomal recessive [OMIM Phenotype]
- Autosomal recessive aplasia cutis congenita of limb (disorder) [SNOMED CT concept]
- Recessive aplasia cutis congenita of limbs [ORDO Disease]
Validated automatic mappings to NTBT
- Aplasia cutis congenita of limb (disorder) [SNOMED CT concept]

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