Telangiectasia, hereditary hemorrhagic, type 4

Preferred Label : Telangiectasia, hereditary hemorrhagic, type 4;

Symbol : HHT4;

CISMeF acronym : HHT4;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of hereditary hemorrhagic telangiectasia (HHT), see HHT1 (187300).;

Inheritance : Autosomal dominant;

Prefixed ID : %610655;

Détails

Origin ID

610655;

UMLS CUI

C1857688;

Currated CISMeF NLP mapping
- telangiectasia, hereditary hemorrhagic, type 4 [MeSH concept]
- telangiectasia, hereditary hemorrhagic, type 4 [MeSH Supplementary Concept]
HPO term(s)
- Arteriovenous fistulas of celiac and mesenteric vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral arteriovenous malformation [HPO term]
- Cerebral hemorrhage [HPO term]
- Conjunctival telangiectasia [HPO term]
- Cyanosis [HPO term]
- Dilatation of celiac artery [HPO term]
- Dilatation of mesenteric artery [HPO term]
- Dyspnea [HPO term]
- Heterogeneous [HPO term]
- High-output congestive heart failure [HPO term]
- Ischemic stroke [HPO term]
- Lip telangiectasia [HPO term]
- Migraine [HPO term]
- Nasal mucosa telangiectasia [HPO term]
- Palate telangiectasia [HPO term]
- Pulmonary arteriovenous malformation [HPO term]
- Right-to-left shunt [HPO term]
- Spinal arteriovenous malformation [HPO term]
- Spontaneous, recurrent epistaxis [HPO term]
- Subarachnoid hemorrhage [HPO term]
- Tongue telangiectasia [HPO term]
- Transient ischemic attack [HPO term]
- Venous varicosities of celiac and mesenteric vessels [HPO term]
ORDO concept(s)
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- telangiectasia, hereditary hemorrhagic, type 4 [MeSH Supplementary Concept]
- telangiectasia, hereditary hemorrhagic, type 4 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary hemorrhagic telangiectasia [ORDO Disease]

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

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