Acrofacial dysostosis, palagonia type

Preferred Label : Acrofacial dysostosis, palagonia type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 601829;

Details

Origin ID

601829;

UMLS CUI

C1866168;

Automatic exact mappings (from CISMeF team)
- Acrofacial dysostosis, Palagonia type [ICD-11 More detail]
CISMeF manual mappings
- Acrofacial dysostosis Palagonia type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrofacial dysostosis, Palagonia type [MeSH concept]
- Acrofacial dysostosis, Palagonia type [ORDO Disease]
- acrofacial dysostosis, palagonia type [MeSH Supplementary Concept]
DO Cross reference
- acrofacial dysostosis, Patagonia type [DO Concept]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Aplasia cutis congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft upper lip [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Malar flattening [HPO term]
- Oligodontia [HPO term]
- Pili torti [HPO term]
- Prominent forehead [HPO term]
- Scoliosis [HPO term]
- Short 4th metacarpal [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Spina bifida occulta at S1 [HPO term]
- Unilateral cleft lip [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Acrofacial dysostosis, Palagonia type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofacial dysostosis Palagonia type (disorder) [SNOMED CT concept]
- Acrofacial dysostosis, Palagonia type [ORDO Disease]
- Acrofacial dysostosis, Palagonia type [MeSH concept]
- acrofacial dysostosis, Patagonia type [DO Concept]
- acrofacial dysostosis, palagonia type [MeSH Supplementary Concept]

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