Achalasia-microcephaly syndrome

Preferred Label : Achalasia-microcephaly syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 200450;

Details

Origin ID

200450;

UMLS CUI

C1860212;

CISMeF manual mappings
- Achalasia microcephaly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Achalasia microcephaly [MeSH concept]
- Achalasia-microcephaly syndrome [ORDO Disease]
- achalasia microcephaly [MeSH Supplementary Concept]
- achalasia microcephaly syndrome [DO Concept]
DO Cross reference
- achalasia microcephaly syndrome [DO Concept]
HPO term(s)
- Achalasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Esotropia [HPO term]
- Hirsutism [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
ORDO concept(s)
- Achalasia-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achalasia microcephaly [MeSH concept]
- Achalasia microcephaly syndrome (disorder) [SNOMED CT concept]
- Achalasia-microcephaly syndrome [ORDO Disease]
- achalasia microcephaly [MeSH Supplementary Concept]
- achalasia microcephaly syndrome [DO Concept]

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