Ichthyosis--cheek--eyebrow syndrome

Preferred Label : Ichthyosis--cheek--eyebrow syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ice syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 146720;

Details

Origin ID

146720;

UMLS CUI

C1840283;

Automatic exact mappings (from CISMeF team)
- Iridocorneal endothelial syndrome [ICD-11 More detail]
- Iridocorneal endothelial syndrome [ORDO Disease]
- Secondary angle closure glaucoma due to endothelial overgrowth [ICD-11 Sub-sub category]
- iridocorneal endothelial syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Ichthyosis cheek eyebrow syndrome [MeSH concept]
- Ichthyosis cheek eyebrow syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-cheek-eyebrow syndrome [ORDO Disease]
- ichthyosis cheek eyebrow syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Full cheeks [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Kyphoscoliosis [HPO term]
- Pes planus [HPO term]
- Sparse lateral eyebrow [HPO term]
ORDO concept(s)
- Ichthyosis-cheek-eyebrow syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis cheek eyebrow syndrome [MeSH concept]
- Ichthyosis cheek eyebrow syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-cheek-eyebrow syndrome [ORDO Disease]
- ichthyosis cheek eyebrow syndrome [MeSH Supplementary Concept]

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