Brachial amelia, cleft lip, and holoprosencephaly

Preferred Label : Brachial amelia, cleft lip, and holoprosencephaly;

Symbol : ACLH;

CISMeF acronym : ACLH;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brachial amelia, forebrain defects, and facial clefts;

Description : Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).;

Inheritance : Isolated cases;

Prefixed ID : %601357;

Détails

Origin ID

601357;

UMLS CUI

C1832434;

Currated CISMeF NLP mapping
- yim ebbin syndrome [MeSH concept]
- yim ebbin syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent septum pellucidum [HPO term]
- Amelia [HPO term]
- Anterior encephalocele [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Cleft upper lip [HPO term]
- Coloboma [HPO term]
- Congenital onset [HPO term]
- Facial cleft [HPO term]
- Foot oligodactyly [HPO term]
- Holoprosencephaly [HPO term]
- Low-set ears [HPO term]
- Omphalocele [HPO term]
- Scoliosis [HPO term]
- Short femur [HPO term]
- Sporadic [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- yim ebbin syndrome [MeSH Supplementary Concept]
- yim ebbin syndrome [MeSH concept]

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

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