Lymphatic malformation 5

Preferred Label : Lymphatic malformation 5;

Symbol : LMPHM5;

CISMeF acronym : LMPH2; LMPHM5;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Meige disease; Lymphedema praecox; Meige lymphedema; Lymphedema, late-onset; Lymphedema, hereditary, II; LMPH2;

Description : See hereditary lymphedema type IA, or Milroy disease (153100), which is caused by mutation in the FLT4 gene (136352), for a disorder with a related phenotype.;

Inheritance : Autosomal dominant;

Prefixed ID : %153200;

Details

Origin ID

153200;

UMLS CUI

C4746631;

Automatic exact mappings (from CISMeF team)
- Lymphedema praecox (disorder) [SNOMED CT concept]
- Peripubertal primary lymphoedema [ICD-11 More detail]
- lymphedema praecox [SNOMED Notion]
Currated CISMeF NLP mapping
- Hereditary lymphedema type II (disorder) [SNOMED CT concept]
- Meige disease [Disease (Nov.)]
- Meige disease [ORDO Disease]
- Trophoedema [MedDRA LLT]
- hereditary lymphedema II [DO Concept]
- lymphedema, hereditary, II [MeSH concept]
- lymphedema, hereditary, II [MeSH Supplementary Concept]
DO Cross reference
- hereditary lymphedema II [DO Concept]
False automatic mappings
- Lymphedema praecox [ORDO Disease]
- Lymphedema praecox [MedDRA LLT]
- Lymphoedema praecox [MedDRA LLT]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Facial edema [HPO term]
- Hypoplasia of lymphatic vessels [HPO term]
- Predominantly lower limb lymphedema [HPO term]
- Yellow nails [HPO term]
ORDO concept(s)
- Meige disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphedema praecox [MedDRA LLT]
- Lymphedema praecox [ORDO Disease]
- Lymphedema praecox (disorder) [SNOMED CT concept]
- Lymphoedema praecox [MedDRA LLT]
- lymphedema praecox [SNOMED Notion]
- lymphedema, hereditary, II [MeSH Supplementary Concept]
- lymphedema, hereditary, II [MeSH concept]
Validated automatic mappings to NTBT
- Lymphedema, not elsewhere classified [ICD-10 Sub-category]
- lymphedema [MeSH Descriptor]

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