Membranous cranial ossification, delayed

Preferred Label : Membranous cranial ossification, delayed;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Translocation (2,3)(p15,q12) (in one family);

Prefixed ID : %155980;

Details

Origin ID

155980;

UMLS CUI

C1835030;

Automatic exact mappings (from CISMeF team)
- Delayed membranous cranial ossification [ICD-11 More detail]
Currated CISMeF NLP mapping
- Delayed membranous cranial ossification [ORDO Disease]
- Delayed membranous cranial ossification (disorder) [SNOMED CT concept]
- membranous cranial ossification, delayed [MeSH concept]
- membranous cranial ossification, delayed [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Low-set ears [HPO term]
ORDO concept(s)
- Delayed membranous cranial ossification [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Delayed membranous cranial ossification [ORDO Disease]
- Delayed membranous cranial ossification (disorder) [SNOMED CT concept]
- membranous cranial ossification, delayed [MeSH Supplementary Concept]
- membranous cranial ossification, delayed [MeSH concept]

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