Cole-Carpenter Syndrome

Preferred Label : Cole-Carpenter Syndrome;

Alternative definition : NICHD: Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia.;

Details

Origin ID

C130985;

UMLS CUI

C1862178;

Currated CISMeF NLP mapping
- Cole Carpenter syndrome [MeSH concept]
- Cole-Carpenter dysplasia (disorder) [SNOMED CT concept]
- Cole-Carpenter syndrome [DO Concept]
- Cole-Carpenter syndrome [ORDO Disease]
- Cole-Carpenter syndrome [ICD-11 More detail]
- Cole-carpenter syndrome [OMIM phenotypic series]
- cole carpenter syndrome [MeSH Supplementary Concept]
DO Cross reference
- Cole-Carpenter syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cole Carpenter syndrome [MeSH concept]
- Cole-Carpenter dysplasia (disorder) [SNOMED CT concept]
- Cole-Carpenter syndrome [ORDO Disease]
- Cole-Carpenter syndrome [DO Concept]
- Cole-carpenter syndrome 1 [OMIM Phenotype]
- cole carpenter syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Cole-carpenter syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- SEC24D Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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