Corneal dystrophy, posterior amorphous

Preferred Label : Corneal dystrophy, posterior amorphous;

Symbol : PACD;

CISMeF acronym : PACD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Posterior amorphous corneal dystrophy; Chromosome 12q21.33 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene deletion of 700-1,670kb on chromosome 21q21.33;

Prefixed ID : #612868;

Details

Origin ID

612868;

UMLS CUI

C2748502;

Automatic exact mappings (from CISMeF team)
- Posterior amorphous corneal dystrophy [ICD-11 More detail]
- cytoplasmic protein A [MeSH concept]
- cytoplasmic protein A [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Posterior amorphous corneal dystrophy [ORDO Disease]
- Posterior amorphous corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, posterior amorphous [MeSH concept]
- corneal dystrophy, posterior amorphous [MeSH Supplementary Concept]
- posterior amorphous corneal dystrophy [DO Concept]
DO Cross reference
- posterior amorphous corneal dystrophy [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Ectopia pupillae [HPO term]
- Hypermetropia [HPO term]
- Infantile onset [HPO term]
- Iris coloboma [HPO term]
- Nonprogressive [HPO term]
ORDO concept(s)
- Posterior amorphous corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Posterior amorphous corneal dystrophy [ORDO Disease]
- Posterior amorphous corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, posterior amorphous [MeSH Supplementary Concept]
- corneal dystrophy, posterior amorphous [MeSH concept]
- posterior amorphous corneal dystrophy [DO Concept]

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