Spastic paraplegia 19, autosomal dominant

Preferred Label : Spastic paraplegia 19, autosomal dominant;

Symbol : SPG19;

CISMeF acronym : SPG19;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Prefixed ID : %607152;

Details

Origin ID

607152;

UMLS CUI

C1846685;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 19 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 19 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 19 (disorder) [SNOMED CT concept]
- Spastic paraplegia 19, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 19 [DO Concept]
- spastic paraplegia 19, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 19 [DO Concept]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Knee clonus [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 19 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 19 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 19 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 19 (disorder) [SNOMED CT concept]
- Spastic paraplegia 19, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 19 [DO Concept]
- spastic paraplegia 19, autosomal dominant [MeSH Supplementary Concept]

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