Aphalangia, partial, with syndactyly and duplication of metatarsal iv

Preferred Label : Aphalangia, partial, with syndactyly and duplication of metatarsal iv;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : ?Autosomal dominant; ?Autosomal recessive;

Prefixed ID : %600384;

Details

Origin ID

600384;

UMLS CUI

C1838161;

Automatic exact mappings (from CISMeF team)
- aphalangia, partial, with syndactyly and duplication of metatarsal IV [MeSH Supplementary Concept]
- aphalangia, partial, with syndactyly and duplication of metatarsal IV [MeSH concept]
CISMeF manual mappings
- Aphalangy and syndactyly with microcephaly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aphalangia syndactyly microcephaly [MeSH concept]
- Aphalangy-syndactyly-microcephaly syndrome [ORDO Disease]
- aphalangia syndactyly microcephaly [MeSH Supplementary Concept]
HPO term(s)
- Aplasia/Hypoplasia of toe [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cognitive impairment [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Duplication of metatarsal bones [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Low intelligence [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Aphalangy-syndactyly-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aphalangy-syndactyly-microcephaly syndrome [ORDO Disease]
- aphalangia, partial, with syndactyly and duplication of metatarsal IV [MeSH Supplementary Concept]
- aphalangia, partial, with syndactyly and duplication of metatarsal IV [MeSH concept]

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