Craniometadiaphyseal dysplasia

Preferred Label : Craniometadiaphyseal dysplasia;

Symbol : CRMDD;

CISMeF acronym : CRMDD;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Increased alkaline phosphatase;

Prefixed ID : %269300;

Details

Origin ID

269300;

UMLS CUI

C0265292;

Currated CISMeF NLP mapping
- Craniodiaphyseal Dysplasia [NCIt concept]
- Craniometadiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometaphyseal dysplasia [PASCAL descriptor]
- Craniometaphyseal dysplasia [ICD-11 More detail]
- Craniometaphyseal dysplasia [ORDO Disease]
- Craniometaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Craniometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Schwartz-Lelek syndrome [MeSH concept]
- Schwartz-Lelek syndrome [MeSH Supplementary Concept]
- craniometaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia [Disease (Nov.)]
- craniometaphyseal dysplasia [SNOMED Notion]
HPO term(s)
- Abnormally large globe [HPO term]
- Absent paranasal sinuses [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad long bones [HPO term]
- Broad ribs [HPO term]
- Carious teeth [HPO term]
- Coxa valga [HPO term]
- Cubitus valgus [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Flared metaphysis [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Genu varus [HPO term]
- High palate [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Megalencephaly [HPO term]
- Microdontia [HPO term]
- Natal tooth [HPO term]
- Osteopenia [HPO term]
- Prominent forehead [HPO term]
- Sclerosis of skull base [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Wide anterior fontanel [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Craniometadiaphyseal dysplasia, wormian bone type [ORDO Disease]
See also inter- (CISMeF)
- Craniodiaphyseal dysplasia [ICD-11 More detail]
- Craniometadiaphyseal dysplasia, wormian bone type [ORDO Disease]
- Craniometaphyseal dysplasia [ORDO Disease]
- Craniometaphyseal dysplasia (disorder) [SNOMED CT concept]
- craniometaphyseal dysplasia [Disease (Nov.)]
- craniometaphyseal dysplasia [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Craniometadiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometaphyseal dysplasia [PASCAL descriptor]
- Craniometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Schwartz-Lelek syndrome [MeSH Supplementary Concept]
- Schwartz-Lelek syndrome [MeSH concept]
- craniometaphyseal dysplasia [SNOMED Notion]
- craniometaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia [Disease (Nov.)]

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