Cerebral palsy, ataxic, autosomal recessive

Preferred Label : Cerebral palsy, ataxic, autosomal recessive;

CISMeF acronym : ACP;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : ACP; Ataxic cerebral palsy;

Description : Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). It is a common disorder of childhood, with an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). Ataxic cerebral palsy accounts for 5 to 10% of all forms of CP, and approximately 50% of ataxic CP is thought to be inherited as an autosomal recessive trait (McHale et al., 2000). Also see spastic cerebral palsy (603513).;

Inheritance : Autosomal recessive;

Prefixed ID : %605388;

Details

Origin ID

605388;

UMLS CUI

C0394005;

Automatic exact mappings (from CISMeF team)
- ACP protocol [MeSH Supplementary Concept]
- Adamantinomatous Craniopharyngioma [NCIt concept]
- Ataxic Cerebral Palsy [NCIt concept]
- Ataxic cerebral palsy [ICD-11 Category]
- Ataxic cerebral palsy [ICD-10 Sub-category]
- Ataxic cerebral palsy [ICD-10 Sub-category (who)]
- Cycloleucine [NCIt concept]
- acyl carrier protein [MeSH Descriptor]
- analgesia, Patient-Controlled [MeSH Descriptor]
- ataxic cerebral palsy [DO Concept]
- holo-[acyl-carrier-protein] synthase activity [GO term]
- polymerase chain reaction [MeSH Descriptor]
Currated CISMeF NLP mapping
- cerebral palsy, ataxic, autosomal recessive [MeSH concept]
- cerebral palsy, ataxic, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- ataxic cerebral palsy [DO Concept]
False automatic mappings
- American College of Physicians [NCIt concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral palsy [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Horizontal nystagmus [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxic Cerebral Palsy [NCIt concept]
- Ataxic cerebral palsy [ICD-10 Sub-category]
- Ataxic cerebral palsy [ICD-11 Category]
- Ataxic cerebral palsy [MedDRA LLT]
- Ataxic cerebral palsy (disorder) [SNOMED CT concept]
- ataxic cerebral palsy [DO Concept]
- cerebral palsy, ataxic, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Ataxic Cerebral Palsy [NCIt concept]
- Ataxic cerebral palsy (disorder) [SNOMED CT concept]

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