Acropectorovertebral dysplasia

Preferred Label : Acropectorovertebral dysplasia;

Symbol : ACRPV;

CISMeF acronym : ACRPV;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : F syndrome;

Description : Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).;

Inheritance : Autosomal dominant;

Prefixed ID : %102510;

Détails

Origin ID

102510;

UMLS CUI

C1863307;

CISMeF manual mappings
- Acropectorovertebral dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acropectorovertebral dysplasia [ICD-11 More detail]
- Acropectorovertebral dysplasia [ORDO Disease]
- acropectorovertebral dysplasia, F-Form [MeSH concept]
- acropectorovertebral dysplasia, F-Form [MeSH Supplementary Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid distal phalanx of the thumb [HPO term]
- Broad thumb [HPO term]
- Capitate-hamate fusion [HPO term]
- Finger syndactyly [HPO term]
- Incipient distal thumb phalanx duplication [HPO term]
- Radial deviation of the 2nd finger [HPO term]
- Short thumb [HPO term]
- Short, broad thumbs [HPO term]
- Skeletal dysplasia [HPO term]
- Spina bifida occulta at L5 [HPO term]
- Spina bifida occulta at S1 [HPO term]
- Synostosis of carpal bones [HPO term]
- Toe syndactyly [HPO term]
ORDO concept(s)
- Acropectorovertebral dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acropectorovertebral dysplasia [ORDO Disease]
- Acropectorovertebral dysplasia [ICD-11 More detail]
- Acropectorovertebral dysplasia (disorder) [SNOMED CT concept]
- acropectorovertebral dysplasia, F-Form [MeSH Supplementary Concept]
- acropectorovertebral dysplasia, F-Form [MeSH concept]

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