congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Preferred Label : congenital hemidysplasia with ichthyosiform erythroderma and limb defects;

MeSH note : mutation in NSDHL;

MeSH synonym : CHILD syndrome; ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs;

Details

Origin ID

C562515;

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 [Disease (Nov.)]
- CHILD syndrome [ORDO Disease]
- Child syndrome (disorder) [SNOMED CT concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [OMIM Phenotype]
- Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects [ICD-11 More detail]
- child syndrome [SNOMED Notion]
DO Cross reference
- CHILD syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- ichthyosiform erythroderma, congenital [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
Record concept(s)
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHILD syndrome [ORDO Disease]
- CHILD syndrome [Disease (Nov.)]
- 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]
- Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects [ICD-11 More detail]
- child syndrome [SNOMED Notion]

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