IMAGe Syndrome

Preferred Label : IMAGe Syndrome;

Alternative definition : NICHD: A condition caused by heterozygous mutation(s) in the CDKN1C gene, encoding cyclin-dependent kinase inhibitor 1C, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies.;

Détails

Origin ID

C130988;

UMLS CUI

C1846009;

Currated CISMeF NLP mapping
- IMAGe syndrome [DO Concept]
- IMAGe syndrome [ORDO Disease]
- IMAGe syndrome [ICD-11 More detail]
- Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) [SNOMED CT concept]
- Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [OMIM Phenotype]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH Supplementary Concept]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IMAGe syndrome [ORDO Disease]
- IMAGe syndrome [DO Concept]
- Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) [SNOMED CT concept]
- Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [OMIM Phenotype]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH Supplementary Concept]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- CDKN1C Gene [NCIt concept]

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

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