Hypoglossia with situs inversus

Preferred Label : Hypoglossia with situs inversus;

Type : Phenotype or locus, molecular basis unknown;

Included titles and symbols : Hypoglossia, isolated;

Description : Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008). Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. Hall (1971) provided a classification system (see 103300). See also agnathia with holoprosencephaly (202650), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects.;

Inheritance : Isolated cases;

Prefixed ID : %612776;

Détails

Origin ID

612776;

UMLS CUI

C2748587;

Automatic exact mappings (from CISMeF team)
- Isolated congenital hypoglossia/aglossia [ORDO Disease]
- hypoglossia with situs inversus [MeSH Supplementary Concept]
- hypoglossia with situs inversus [MeSH concept]
- hypoglossia, isolated [MeSH Supplementary Concept]
- hypoglossia, isolated [MeSH concept]
HPO term(s)
- Asplenia [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypodontia [HPO term]
- Isolated cases [HPO term]
- Low-set ears [HPO term]
- Malnutrition [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Onset in utero [HPO term]
- Polysplenia [HPO term]
- Respiratory distress [HPO term]
- Situs inversus totalis [HPO term]
- Speech delay [HPO term]
- Speech difficulties [HPO term]
- Sporadic [HPO term]
- Upper airway obstruction [HPO term]
Narrower ORDO disease(s)
- Isolated congenital hypoglossia/aglossia [ORDO Disease]
ORDO concept(s)
- Isolated congenital hypoglossia/aglossia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypoglossia with situs inversus [MeSH Supplementary Concept]
- hypoglossia with situs inversus [MeSH concept]

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

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