Angioma serpiginosum, X-linked

Preferred Label : Angioma serpiginosum, X-linked;

Type : Phenotype or locus, molecular basis unknown;

Description : Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) (Blinkenberg et al., 2007). See 106050 for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007).;

Inheritance : X-linked dominant;

Prefixed ID : %300652;

Details

Origin ID

300652;

UMLS CUI

C4721404;

Currated CISMeF NLP mapping
- angioma serpiginosum, X-linked [MeSH concept]
- angioma serpiginosum, X-linked [MeSH Supplementary Concept]
DO Cross reference
- angioma serpiginosum [DO Concept]
HPO term(s)
- Congenital onset [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Fine hair [HPO term]
- Hyperkeratosis [HPO term]
- Nail dystrophy [HPO term]
- Slowly progressive [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Thin hair [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Angioma serpiginosum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Angioma Serpiginosum [NCIt concept]
- Angioma serpiginosum (disorder) [SNOMED CT concept]
- angioma serpiginosum [SNOMED Notion]
- angioma serpiginosum [DO Concept]
- angioma serpiginosum, X-linked [MeSH Supplementary Concept]
- angioma serpiginosum, X-linked [MeSH concept]
Validated automatic mappings to NTBT
- Angioma serpiginosum [ORDO Disease]

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