Aplasia cutis congenita of limbs, autosomal recessive

Preferred Label : Aplasia cutis congenita of limbs, autosomal recessive;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %600360;

Détails

Origin ID

600360;

UMLS CUI

C1838206;

Currated CISMeF NLP mapping
- Aplasia cutis congenita of limbs [ICD-11 More detail]
- Aplasia cutis congenita of limbs recessive [MeSH concept]
- Autosomal recessive aplasia cutis congenita of limb (disorder) [SNOMED CT concept]
- Recessive aplasia cutis congenita of limbs [ORDO Disease]
- aplasia cutis congenita of limbs recessive [MeSH Supplementary Concept]
HPO term(s)
- Aplasia cutis congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital absence of skin of limbs [HPO term]
ORDO concept(s)
- Aplasia cutis congenita [ORDO Disease]
- Recessive aplasia cutis congenita of limbs [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia cutis congenita of limbs recessive [MeSH concept]
- Autosomal recessive aplasia cutis congenita of limb (disorder) [SNOMED CT concept]
- Recessive aplasia cutis congenita of limbs [ORDO Disease]
- aplasia cutis congenita of limbs recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Aplasia cutis congenita of limb (disorder) [SNOMED CT concept]

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