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716997004: Joubert syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308127014 Joubert syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308128016 Joubert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401438012 A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401439016 A rare, autosomal recessive congenital cerebellar ataxia characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308127014 Joubert syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308128016 Joubert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308129012 Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401438012 A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401439016 A rare, autosomal recessive congenital cerebellar ataxia characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432541001000112 Joubert-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925071000172114 syndrome de Joubert classique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978711000172111 syndrome de Joubert fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925071000172114 syndrome de Joubert classique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978711000172111 syndrome de Joubert fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432541001000112 Joubert-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Joubert syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome Is a Familial aplasia of the vermis true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Joubert syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Joubert syndrome with ocular defect Is a True Joubert syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with renal defect Is a True Joubert syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with congenital hepatic fibrosis (disorder) Is a True Joubert syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a True Joubert syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with orofaciodigital defect Is a True Joubert syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder) Is a True Joubert syndrome Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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