Nuchal bleb, familial

Preferred Label : Nuchal bleb, familial;

CISMeF acronym : FCH;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cystic hygroma, fetal; FCH;

Description : Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983).;

Inheritance : more often 45,X Turner syndrome; Autosomal recessive;

Prefixed ID : 257350;

Details

Origin ID

257350;

UMLS CUI

C0948242;

Automatic exact mappings (from CISMeF team)
- Cystic hygroma [ORDO Disease]
- Familial combined hyperlipidaemia [ICD-11 More detail]
- Fetal cystic hygroma [MedDRA LLT]
- colony-stimulating factors [MeSH Descriptor]
Currated CISMeF NLP mapping
- Fetal cystic hygroma [HPO term]
- Foetal cystic hygroma [MedDRA Preferred Term]
- nuchal bleb, familial [MeSH concept]
- nuchal bleb, familial [MeSH Supplementary Concept]
DO Cross reference
- cystic lymphangioma [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cystic hygroma [HPO term]
- Fetal cystic hygroma [HPO term]
- Hydrops fetalis [HPO term]
- Stillbirth [HPO term]
ORDO concept(s)
- Cystic hygroma [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal cystic hygroma [MedDRA LLT]
- Fetal cystic hygroma [HPO term]
- Foetal cystic hygroma [MedDRA Preferred Term]
- nuchal bleb, familial [MeSH Supplementary Concept]
- nuchal bleb, familial [MeSH concept]

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