ichthyosis prematurity syndrome

Preferred Label : ichthyosis prematurity syndrome;

CISMeF synonym : aniridia partial with unilateral renal agenesis and psychomotor retardation; aniridia renal agenesis psychomotor retardation;

MeSH synonym : ichthyosis congenita IV;

Details

Origin ID

C536271;

UMLS CUI

C1837610;

Automatic exact mappings (from CISMeF team)
- Aniridia, partial, with unilateral renal agenesis and psychomotor retardation [OMIM Phenotype]
- Aniridia-renal agenesis-psychomotor retardation syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ichthyosis prematurity syndrome [OMIM Phenotype]
- Ichthyosis prematurity syndrome (disorder) [SNOMED CT concept]
- Ichthyosis – prematurity syndrome [ICD-11 More detail]
- Ichthyosis-prematurity syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- aniridia [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
- infant, premature, diseases [MeSH Descriptor]
- kidney [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
ORDO relation(s)
- Ichthyosis-prematurity syndrome [ORDO Disease]
Record concept(s)
- Ichthyosis prematurity syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis prematurity syndrome [OMIM Phenotype]
- Ichthyosis prematurity syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-prematurity syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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