Adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone

Preferred Label : Adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 202150;

Details

Origin ID

202150;

UMLS CUI

C1859978;

Automatic exact mappings (from CISMeF team)
- adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone [MeSH Supplementary Concept]
- adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone [MeSH concept]
Currated CISMeF NLP mapping
- Familial adrenal hypoplasia [ICD-11 More detail]
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone [ORDO Disease]
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Adrenal hypoplasia of the miniature adult type [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital adrenal hypoplasia [HPO term]
- Cryptorchidism [HPO term]
- Micropenis [HPO term]
ORDO concept(s)
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone [ORDO Disease]
- adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone [MeSH Supplementary Concept]
- adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone [MeSH concept]

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