Ichthyosis prematurity syndrome

Preferred Label : Ichthyosis prematurity syndrome;

Symbol : IPS;

CISMeF acronym : IPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis congenita iv;

Prefixed ID : #608649;

Details

Origin ID

608649;

UMLS CUI

C1837610;

Automatic exact mappings (from CISMeF team)
- Cardio Ankle Vascular Index [MeSH Descriptor]
- Idiopathic Pneumonia Syndrome [NCIt concept]
- International Prognostic Scoring System (IPSS) for Myelodysplastic Syndromes [NCIt concept]
- SLC27A4 wt Allele [NCIt concept]
- ankle brachial index [MeSH Descriptor]
- inositol-3-phosphate synthase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Ichthyosis prematurity syndrome [MeSH concept]
- Ichthyosis prematurity syndrome (disorder) [SNOMED CT concept]
- Ichthyosis – prematurity syndrome [ICD-11 More detail]
- Ichthyosis-prematurity syndrome [ORDO Disease]
- ichthyosis prematurity syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 27 (fatty acid transporter), member 4 [OMIM gene]
HPO term(s)
- Allergic rhinitis [HPO term]
- Alopecia of scalp [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Caseous vernix-like desquamation [HPO term]
- Dermatographic urticaria [HPO term]
- Epidermal acanthosis [HPO term]
- Erythroderma [HPO term]
- Follicular hyperkeratosis [HPO term]
- Food allergy [HPO term]
- Generalized ichthyosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Neonatal asphyxia [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Pruritus [HPO term]
ORDO concept(s)
- Ichthyosis-prematurity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis prematurity syndrome [MeSH concept]
- Ichthyosis prematurity syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-prematurity syndrome [ORDO Disease]
- ichthyosis prematurity syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients