Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects

Preferred Label : Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects;

ICD-11 definition : CHILD (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects) syndrome is a rare multisystem birth defect characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk.;

ICD-11 synonym : 3-beta-hydroxysteroid C-4 dehydrogenase deficiency; CHILD syndrome; CHILD - [Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects] syndrome;

Details

Origin ID

1946716835;

UMLS CUI

C0265267;

Automatic exact mappings (from CISMeF team)
- CHILD syndrome [MedDRA Preferred Term]
- CHILD syndrome [DO Concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MedDRA LLT]
Currated CISMeF NLP mapping
- CHILD syndrome [ORDO Disease]
- CHILD syndrome [Disease (Nov.)]
- Child syndrome (disorder) [SNOMED CT concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [OMIM Phenotype]
- child syndrome [SNOMED Notion]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHILD syndrome [Disease (Nov.)]
- CHILD syndrome [ORDO Disease]
- CHILD syndrome [MedDRA Preferred Term]
- CHILD syndrome [DO Concept]
- Child syndrome (disorder) [SNOMED CT concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [OMIM Phenotype]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MedDRA LLT]
- child syndrome [SNOMED Notion]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]

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