congenital ichthyosis of skin, nos - CISMeF

CISMeF

chu

Congenital ichthyosis of skin, nosSNOMED Notion

Preferred Label : congenital ichthyosis of skin, nos;

Details

Origin ID

D4-40110;

UMLS CUI

C0020758;

Automatic exact mappings (from CISMeF team)
- Congenital ichthyosis [MedDRA LLT]
- Congenital ichthyosis [ICD-10 category]
- Congenital ichthyosis [HPO term]
- Congenital ichthyosis [ICD-10 category (who)]
- Congenital ichthyosis of skin (disorder) [SNOMED CT concept]
- Congenital ichthyosis, unspecified [ICD-10 Sub-category (who)]
- Hereditary ichthyosis [Vue CIM-11]
- ICHTHYOSIS [WHO-ART Included Term]
- Ichthyoses [ICD-11 Category]
- Ichthyoses [MedDRA High Level Term]
- Ichthyosis [MedDRA Preferred Term]
- Ichthyosis [PASCAL descriptor]
- Ichthyosis [NCIt concept]
- Ichthyosis [HPO term]
- Ichthyosis [ORDO Disease]
- Ichthyosis (disorder) [SNOMED CT concept]
- Ichthyosis congenita [MedDRA LLT]
- Ichthyosis congenital [MedDRA LLT]
- Other congenital ichthyosis [ICD-10 Sub-category (who)]
- ichthyosis [MeSH Descriptor]
- ichthyosis [MeSH concept]
- skin disease other [ICPC-2 Rubric]
ICD-10 exact mapping(s)
- Congenital ichthyosis, unspecified [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Al-Gazali-Dattani syndrome [ORDO Disease]
- Congenital cataract-ichthyosis syndrome [ORDO Disease]
- Congenital ichthyosis-microcephalus-tetraplegia syndrome [ORDO Disease]
- Fanconi syndrome-ichthyosis-dysmorphism syndrome [ORDO Disease]
- IBIDS syndrome [ORDO Disease]
- Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly [ORDO Disease]
- Ichthyosis associated with a nucleotide excision repair anomaly [ORDO Disease]
- Ichthyosis associated with a peroxisomal disease [ORDO Disease]
- Ichthyosis associated with a protein catabolism anomaly [ORDO Disease]
- Ichthyosis-cheek-eyebrow syndrome [ORDO Disease]
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]
- Ichthyosis-oral and digital anomalies syndrome [ORDO Disease]
- Ichthyosis-prematurity syndrome [ORDO Disease]
- Keratoderma hereditarium mutilans with ichthyosis [ORDO Disease]
- MEDNIK syndrome [ORDO Disease]
- Neonatal ichthyosis-sclerosing cholangitis syndrome [ORDO Disease]
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome [ORDO Disease]
- Peeling skin syndrome [ORDO Disease]
- Restrictive dermopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Epidermal disease [ORDO Disease]
Metaterm(s)
- dermatology [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- dehydrated structure [SNOMED Notion]
- developmental anomaly, nos [SNOMED Notion]
- hyperkeratosis, nos [SNOMED Notion]
- skin, nos [SNOMED Notion]
SNOMED CT concept
- Congenital ichthyosis of skin (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital ichthyosis [MedDRA LLT]
- Congenital ichthyosis [ICD-10 category]
- Congenital ichthyosis of skin (disorder) [SNOMED CT concept]
- Congenital ichthyosis, unspecified [ICD-10 Sub-category]
- Ichthyosis congenita [ICD-9 code]
- Ichthyosis congenita [MedDRA LLT]
- Ichthyosis congenital [MedDRA LLT]
- Ichthyosis, congenital, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive congenital ichthyosis 1 [DO Concept]
- congenital ichthyosis [Disease (Nov.)]
- ichthyosis congenita I [MeSH concept]

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25/05/2025

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