Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

Preferred Label : Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies;

Symbol : IMAGE;

CISMeF acronym : IMAGE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Image syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, 600856.0007);

Laboratory abnormalities : Hypercalcemia; Hypercalciuria;

Prefixed ID : #614732;

Details

Origin ID

614732;

UMLS CUI

C1846009;

Automatic exact mappings (from CISMeF team)
- Image [NCIt concept]
- Image [EDAM data]
- Image (foundation metadata concept) [SNOMED CT concept]
- Imager Device [NCIt concept]
- Imaging [LOINC method]
- Imaging [EDAM topic]
- Imaging (procedure) [SNOMED CT concept]
- Imaging Procedure [NCIt concept]
- Imaging Technology [NCIt concept]
- Integrated Molecular Analysis of Genomes and their Expression Consortium [NCIt concept]
- Medical Image [NCIt concept]
- Picture [NCIt concept]
- Picture (physical object) [SNOMED CT concept]
- Scan [MedDRA Preferred Term]
- diagnostic imaging [MedlinePlus Topic]
- diagnostic imaging [MeSH Descriptor]
- image [OBI concept]
- image [CISMeF resources Type]
- imagent [MeSH concept]
- perflexane [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- IMAGe Syndrome [NCIt concept]
- IMAGe syndrome [DO Concept]
- IMAGe syndrome [ICD-11 More detail]
- IMAGe syndrome [ORDO Disease]
- 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 [MeSH Supplementary Concept]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH concept]
DO Cross reference
- IMAGe syndrome [DO Concept]
Genes related to phenotype
- Cyclin-dependent kinase inhibitor 1c [OMIM gene]
HPO term(s)
- Adrenal hypoplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Epiphyseal dysplasia [HPO term]
- Global developmental delay [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hypospadias [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Metaphyseal dysplasia [HPO term]
- Micropenis [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent forehead [HPO term]
- Short nose [HPO term]
ORDO concept(s)
- IMAGe syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IMAGe Syndrome [NCIt 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 [MeSH Supplementary Concept]
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [MeSH concept]

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