Cutis marmorata telangiectatica congenita

Preferred Label : Cutis marmorata telangiectatica congenita;

Symbol : CMTC;

CISMeF acronym : CMTC;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 219250;

Details

Origin ID

219250;

UMLS CUI

C0345419;

Automatic exact mappings (from CISMeF team)
- Thyroid Gland Cribriform Morular Carcinoma [NCIt concept]
Currated CISMeF NLP mapping
- Congenital livedo reticularis (disorder) [SNOMED CT concept]
- Cutis marmorata telangiectatica congenita [PASCAL descriptor]
- Cutis marmorata telangiectatica congenita [ICD-11 More detail]
- Cutis marmorata telangiectatica congenita [HPO term]
- Cutis marmorata telangiectatica congenita [MeSH concept]
- Cutis marmorata telangiectatica congenita [ORDO Disease]
- cutis marmorata telangiectatica congenita [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bowing of the legs [HPO term]
- Congenital retinal detachment [HPO term]
- Cutis marmorata [HPO term]
- Cutis marmorata telangiectatica congenita [HPO term]
- Glaucoma [HPO term]
- Hypertension [HPO term]
- Leukocoria [HPO term]
- Retinal detachment [HPO term]
- Short lower limbs [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Cutis marmorata telangiectatica congenita [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital livedo reticularis (disorder) [SNOMED CT concept]
- Cutis marmorata telangiectatica congenita [ORDO Disease]
- Cutis marmorata telangiectatica congenita [MeSH concept]
- Cutis marmorata telangiectatica congenita [HPO term]
- cutis marmorata telangiectatica congenita [MeSH Supplementary Concept]

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