cantu syndrome

Preferred Label : cantu syndrome;

MeSH note : X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis;

MeSH synonym : hypertrichotic osteochondrodysplasia; Hypertrichosis-Osteochondrodysplasia-Cardiomegaly syndrome;

Details

Origin ID

C535572;

UMLS CUI

C0795905;

Automatic exact mappings (from CISMeF team)
- Hypertrichotic osteochondrodysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Cantu syndrome [OMIM Phenotype]
- Cantu's syndrome (disorder) [SNOMED CT concept]
- Cantú syndrome [ORDO Disease]
- Cranio-facio-cardio-skeletal syndrome [ICD-11 More detail]
- Hypertrichotic osteochondrodysplasia [ICD-11 More detail]
- hypertrichotic osteochondrodysplasia Cantu type [DO Concept]
DO Cross reference
- hypertrichotic osteochondrodysplasia Cantu type [DO Concept]
MeSH term(s) associated for indexing
- cardiomegaly [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- hypertrichosis [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Cantú syndrome [ORDO Disease]
- Hypertrichotic osteochondrodysplasia [ORDO Disease]
Record concept(s)
- Cantu syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cantu syndrome [OMIM Phenotype]
- Cantu's syndrome (disorder) [SNOMED CT concept]
- Cantú syndrome [ORDO Disease]
- Hypertrichotic osteochondrodysplasia [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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