Spondyloepimetaphyseal dysplasia with abnormal dentition

Preferred Label : Spondyloepimetaphyseal dysplasia with abnormal dentition;

Symbol : SEMDAD;

CISMeF acronym : SEMDAD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601668;

Details

Origin ID

601668;

UMLS CUI

C1866507;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia - abnormal dentition [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome [ORDO Disease]
- spondyloepimetaphyseal dysplasia with abnormal dentition [MeSH concept]
- spondyloepimetaphyseal dysplasia with abnormal dentition [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Broad femoral neck [HPO term]
- Conical mandibular incisor [HPO term]
- Discolored lateral incisors [HPO term]
- Flared metaphysis [HPO term]
- Flattened epiphysis [HPO term]
- Genu valgum [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint contracture of the 5th finger [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow iliac wing [HPO term]
- Oligodontia [HPO term]
- Platyspondyly [HPO term]
- Proportionate short stature [HPO term]
- Pseudoepiphyses [HPO term]
- Short femoral neck [HPO term]
- Short, wide femoral neck [HPO term]
- Slender finger [HPO term]
- Slender, tapering fingers [HPO term]
- Small epiphyses [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Tapered finger [HPO term]
- Widely-spaced incisors [HPO term]
- mildly flared irregular metaphyses [HPO term]
- small, flat irregularly ossified epiphyses [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia - abnormal dentition [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome [ORDO Disease]
- spondyloepimetaphyseal dysplasia with abnormal dentition [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia with abnormal dentition [MeSH concept]

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