Scholte syndrome

Preferred Label : Scholte syndrome;

Symbol : SHLTS;

CISMeF acronym : SHLTS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Early balding, patella luxation, acromicria, and hypogonadism;

Inheritance : X-linked recessive;

Prefixed ID : %300977;

Details

Origin ID

300977;

UMLS CUI

C1866985;

CISMeF manual mappings
- scholte syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Intellectual deficit - balding - patella luxation - acromicria [ICD-11 More detail]
- Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-balding-patella luxation-acromicria syndrome [ORDO Disease]
- Scholte syndrome [MeSH concept]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Acromicria [HPO term]
- Bifid nasal tip [HPO term]
- Broad nasal tip [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased testicular size [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- Intellectual disability, severe [HPO term]
- Kyphoscoliosis [HPO term]
- Micropenis [HPO term]
- Patellar hypoplasia [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Short foot [HPO term]
- Small hand [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Intellectual disability-balding-patella luxation-acromicria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual deficit - balding - patella luxation - acromicria [ICD-11 More detail]
- Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-balding-patella luxation-acromicria syndrome [ORDO Disease]
- Scholte syndrome [MeSH concept]
- scholte syndrome [MeSH Supplementary Concept]

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