Chromosome 5q14.3 deletion syndrome, distal

Preferred Label : Chromosome 5q14.3 deletion syndrome, distal;

CISMeF acronym : PVNH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Heterotopia, periventricular, associated with chromosome 5q deletion; Periventricular nodular heterotopia 5; PVNH5;

Description : For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (300049).;

Prefixed ID : #612881;

Détails

Origin ID

612881;

UMLS CUI

C2752071;

Broader ORDO disease(s)
- Nodular neuronal heterotopia [ORDO Disease]
Currated CISMeF NLP mapping
- heterotopia, periventricular, associated with chromosome 5q deletion [MeSH concept]
- heterotopia, periventricular, associated with chromosome 5q deletion [MeSH Supplementary Concept]
DO Cross reference
- periventricular nodular heterotopia [DO Concept]
ORDO concept(s)
- Nodular neuronal heterotopia [ORDO Disease]
- Periventricular nodular heterotopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- heterotopia, periventricular, associated with chromosome 5q deletion [MeSH Supplementary Concept]
- heterotopia, periventricular, associated with chromosome 5q deletion [MeSH concept]

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

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