Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis

Preferred Label : Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? genetic compound;

Prefixed ID : 236660;

Details

Origin ID

236660;

UMLS CUI

C1856051;

Currated CISMeF NLP mapping
- Daish Hardman Lamont syndrome [MeSH concept]
- Hydrocephalus, tall stature, joint laxity syndrome (disorder) [SNOMED CT concept]
- Hydrocephaly-tall stature-joint laxity syndrome [ORDO Disease]
- daish hardman lamont syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hydrocephalus [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Tall stature [HPO term]
- Thoracolumbar kyphosis [HPO term]
ORDO concept(s)
- Hydrocephaly-tall stature-joint laxity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Daish Hardman Lamont syndrome [MeSH concept]
- Hydrocephalus, tall stature, joint laxity syndrome (disorder) [SNOMED CT concept]
- Hydrocephaly-tall stature-joint laxity syndrome [ORDO Disease]
- daish hardman lamont syndrome [MeSH Supplementary Concept]

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