Breasts and/or nipples, aplasia or hypoplasia of, 1

Preferred Label : Breasts and/or nipples, aplasia or hypoplasia of, 1;

Symbol : BNAH1;

CISMeF acronym : AMASTIA; AMAZIA; ATHELIA; BNAH1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : AMASTIA; ATHELIA; AMAZIA;

Description : Absence of the breasts and nipples may occur as an isolated anomaly or as part of a syndrome. Hypoplasia or aplasia of the breasts and nipples occurs in anhidrotic ectodermal dysplasia (305100). Absence of the breast also occurs with Poland syndrome (173800).;

Inheritance : Autosomal dominant;

Prefixed ID : %113700;

Details

Origin ID

113700;

UMLS CUI

C0432357;

Automatic exact mappings (from CISMeF team)
- Absent nipple [ICD-11 Category]
- Absent nipple [HPO term]
- Amastia [MedDRA Preferred Term]
- Amastia [NCIt concept]
- Congenital absence of breast with absent nipple (disorder) [SNOMED CT concept]
- Isolated congenital breast hypoplasia/aplasia [ORDO Disease]
- amastia [MeSH concept]
- amastia [MeSH Supplementary Concept]
- athelia [MeSH concept]
HPO term(s)
- Absent nipple [HPO term]
- Aplasia/Hypoplasia of the breasts [HPO term]
- Aplasia/Hypoplasia of the nipples [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breast and nipple hypoplasia/aplasia [HPO term]
- Choanal atresia [HPO term]
- Hypoplastic areola [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Isolated congenital breast hypoplasia/aplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Amastia [MedDRA Preferred Term]
- Amastia [NCIt concept]
- Breast aplasia [ICD-11 Category]
- Congenital absence of breast with absent nipple [ICD-10 Sub-category]
- Congenital absence of breast with absent nipple (disorder) [SNOMED CT concept]
- Isolated congenital breast hypoplasia/aplasia [ORDO Disease]
- amastia [MeSH Supplementary Concept]
- amastia [MeSH concept]
Validated automatic mappings to NTBT
- Congenital absence of nipple (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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