ichthyosis follicularis atrichia photophobia syndrome

Preferred Label : ichthyosis follicularis atrichia photophobia syndrome;

CISMeF acronym : IFAP;

MeSH synonym : ichthyosis follicularis, atrichia, and photophobia syndrome; Ifap syndrome with or without Bresheck syndrome; IFAP syndrome Ichthyosis follicularis atrichia photophobia syndrome;

Details

Origin ID

C536085;

UMLS CUI

C1839988;

Automatic exact mappings (from CISMeF team)
- Ifap syndrome 1, with or without bresheck syndrome [OMIM Phenotype]
CISMeF manual mappings
- Ichthyosis follicularis with alopecia and photophobia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
DO Cross reference
- ichthyosis follicularis-alopecia-photophobia syndrome 1 [DO Concept]
Has phenotype(s) (HPO)
- Congenital ichthyosis [HPO term]
- Ichthyosis [HPO term]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
- photophobia [MeSH Descriptor]
ORDO relation(s)
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
Record concept(s)
- Ichthyosis follicularis atrichia photophobia syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
- Ifap syndrome 1, with or without bresheck syndrome [OMIM Phenotype]
- ichthyosis follicularis-alopecia-photophobia syndrome 1 [DO Concept]

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