Heterotaxy, visceral, 3, autosomal

Preferred Label : Heterotaxy, visceral, 3, autosomal;

Symbol : HTX3;

CISMeF acronym : HTX3;

Type : Phenotype or locus, molecular basis unknown;

Description : A autosomal form of visceral heterotaxy, designated HTX3, has been mapped to chromosome 6q21. Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).;

Prefixed ID : %606325;

Details

Origin ID

606325;

UMLS CUI

C1853444;

Automatic exact mappings (from CISMeF team)
- Situs ambiguus [ORDO Disease]
Broader ORDO disease(s)
- Heterotaxia [ORDO Disease]
Currated CISMeF NLP mapping
- heterotaxy, visceral, 3, autosomal [MeSH concept]
- heterotaxy, visceral, 3, autosomal [MeSH Supplementary Concept]
DO Cross reference
- visceral heterotaxy [DO Concept]
ORDO concept(s)
- Heterotaxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- heterotaxy, visceral, 3, autosomal [MeSH Supplementary Concept]
- heterotaxy, visceral, 3, autosomal [MeSH concept]
Validated automatic mappings to NTBT
- Heterotaxia [ORDO Disease]
- visceral heterotaxy [DO Concept]

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