Aplasia of lacrimal and salivary glands

Preferred Label : Aplasia of lacrimal and salivary glands;

Symbol : ALSG;

CISMeF acronym : ALSG;

Type : Phenotype, molecular basis known;

Included titles and symbols : Salivary glands, absence of; Parotid aplasia or hypoplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor-10 gene (FGF10, 602115.0001);

Prefixed ID : #180920;

Détails

Origin ID

180920;

UMLS CUI

C0158667;

Automatic exact mappings (from CISMeF team)
- Absence of salivary gland [ICD-9 code]
- Aplasia of lacrimal or salivary glands [ICD-11 Sub-sub category]
- aplasia of lacrimal and salivary glands [DO Concept]
- parotid aplasia or hypoplasia [MeSH Supplementary Concept]
- parotid aplasia or hypoplasia [MeSH concept]
Currated CISMeF NLP mapping
- Aplasia of lacrimal and salivary glands [ORDO Disease]
- Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) [SNOMED CT concept]
- aplasia of lacrimal and salivary glands [MeSH concept]
- aplasia of lacrimal and salivary glands [MeSH Supplementary Concept]
DO Cross reference
- aplasia of lacrimal and salivary glands [DO Concept]
Genes related to phenotype
- Fibroblast growth factor 10 [OMIM gene]
HPO term(s)
- Absent lacrimal punctum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carious teeth [HPO term]
- Lacrimal gland aplasia [HPO term]
- Lacrimal gland hypoplasia [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Aplasia of lacrimal and salivary glands [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Absence of salivary gland [ICD-9 code]
- Absence of salivary gland, congenital [MedDRA LLT]
- Aplasia of lacrimal and salivary glands [ORDO Disease]
- Congenital absence of salivary gland (disorder) [SNOMED CT concept]
- Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) [SNOMED CT concept]
- aplasia of lacrimal and salivary glands [MeSH Supplementary Concept]
- aplasia of lacrimal and salivary glands [MeSH concept]
- aplasia of lacrimal and salivary glands [DO Concept]
- congenital absence of salivary gland [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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