Lamellar Ichthyosis

Preferred Label : Lamellar Ichthyosis;

NCIt definition : A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the presence of a transparent membrane encasing the newborn. This membrane sheds in about two weeks after birth to reveal generalized scaling and skin erythema.;

Details

Origin ID

C84805;

UMLS CUI

C5848247;

Automatic exact mappings (from CISMeF team)
- autosomal recessive congenital ichthyosis [DO Concept]
- congenital ichthyosiform erythroderma [DO Concept]
Currated CISMeF NLP mapping
- Lamellar ichthyosis [ICD-10 Sub-category]
- Lamellar ichthyosis [ICD-11 More detail]
- Lamellar ichthyosis [ICD-10 Sub-category (who)]
- Lamellar ichthyosis [ORDO Disease]
- Lamellar ichthyosis [MedDRA LLT]
- Lamellar ichthyosis (disorder) [SNOMED CT concept]
- Lamellar ichtyosis [PASCAL descriptor]
- ichthyosis, lamellar [MeSH Descriptor]
- ichthyosis, lamellar [MeSH concept]
- lamellar ichthyosis [Disease (Nov.)]
DO Cross reference
- autosomal recessive congenital ichthyosis [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Collodion baby [MedDRA Preferred Term]
- Congenital non bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital non-bullous ichthyosiform erythroderma [ORDO Disease]
- Congenital non-bullous ichthyosiform erythroderma [ICD-11 More detail]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Lamellar ichthyosis [MedDRA LLT]
- Lamellar ichthyosis [ICD-10 Sub-category]
- Lamellar ichthyosis [ORDO Disease]
- Lamellar ichthyosis [ICD-11 More detail]
- Lamellar ichthyosis [ICD-10 Sub-category (who)]
- Lamellar ichthyosis (disorder) [SNOMED CT concept]
- Lamellar ichtyosis [PASCAL descriptor]
- autosomal recessive congenital ichthyosis [DO Concept]
- ichthyosis, lamellar [MeSH concept]
- ichthyosis, lamellar [MeSH Descriptor]
- lamellar ichthyosis [Disease (Nov.)]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]

Keyword's position in hierarchy(ies) :

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