Aprosencephaly syndrome

Preferred Label : Aprosencephaly syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Xk syndrome; Garcia-lurie syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 207770;

Details

Origin ID

207770;

UMLS CUI

C0795952;

Automatic exact mappings (from CISMeF team)
- Aprosencephaly [NCIt concept]
- Aprosencephaly [ORDO Disease]
- Aprosencephaly [HPO term]
- Aprosencephaly (disorder) [SNOMED CT concept]
- anencephaly [MeSH Descriptor]
- aprosencephaly [MeSH concept]
Currated CISMeF NLP mapping
- XK aprosencephaly [MeSH Supplementary Concept]
- XK aprosencephaly [MeSH concept]
- XK aprosencephaly syndrome [ORDO Disease]
- XK aprosencephaly syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Anencephaly [HPO term]
- Aprosencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hand oligodactyly [HPO term]
ORDO concept(s)
- XK aprosencephaly syndrome [ORDO Disease]
See also inter- (CISMeF)
- XK aprosencephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XK aprosencephaly [MeSH Supplementary Concept]
- XK aprosencephaly [MeSH concept]
- XK aprosencephaly syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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