wieacker syndrome

Preferred Label : wieacker syndrome;

CISMeF synonym : Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches; Miles-Carpenter x-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 4;

MeSH synonym : wieacker wolff syndrome; apraxia, oculomotor, with congenital contractures and muscle atrophy; contractures of feet, muscle atrophy, and oculomotor apraxia; Wieacker-Wolff syndrome;

Related MeSH term : Miles-Carpenter x-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 4;

Details

Origin ID

C536703;

UMLS CUI

C0796200;

CISMeF manual mappings
- Intellectual disability, developmental delay, contracture syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Intellectual disability-developmental delay-contractures syndrome [ORDO Disease]
- Wieacker-wolff syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- apraxias [MeSH Descriptor]
- contracture [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- muscular atrophy [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
ORDO relation(s)
- Intellectual disability-developmental delay-contractures syndrome [ORDO Disease]
Record concept(s)
- Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches [MeSH concept]
- Wieacker syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, developmental delay, contracture syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-developmental delay-contractures syndrome [ORDO Disease]
- Wieacker-wolff syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients