macules hereditary congenital hypopigmented and hyperpigmented

Preferred Label : macules hereditary congenital hypopigmented and hyperpigmented;

MeSH synonym : westerhof beemer cormane syndrome; congenital hypomelanotic and hypermelanotic macules; hereditary congenital hypopigmented and hyperpigmented macules; macules, hereditary congenital hypopigmented and hyperpigmented;

Details

Origin ID

C537836;

UMLS CUI

C1835172;

Currated CISMeF NLP mapping
- Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome [ORDO Disease]
- Macules, hereditary congenital hypopigmented and hyperpigmented [OMIM Phenotype]
Has phenotype(s) (HPO)
- macules [HPO term]
MeSH term(s) associated for indexing
- pigmentation disorders [MeSH Descriptor]
Record concept(s)
- Macules hereditary congenital hypopigmented and hyperpigmented [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome [ORDO Disease]
- Macules, hereditary congenital hypopigmented and hyperpigmented [OMIM Phenotype]

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