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764861005: Intellectual disability Birk-Barel type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655431013 Intellectual disability, hypotonia, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655432018 Intellectual disability Birk-Barel type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3655433011 Intellectual disability Birk-Barel type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3655434017 Birk Barel mental retardation dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655435016 KCNK9 (potassium two pore domain channel subfamily K member 9) imprinting syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404402018 Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404403011 Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterised by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycaemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655431013 Intellectual disability, hypotonia, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655432018 Intellectual disability Birk-Barel type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3655433011 Intellectual disability Birk-Barel type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3655434017 Birk Barel mental retardation dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655435016 KCNK9 (potassium two pore domain channel subfamily K member 9) imprinting syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655438019 A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404402018 Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404403011 Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterised by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycaemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3411191001000113 Birk-Barel-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907201000172110 syndrome de déficience intellectuelle, hypotonie, dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929451000172111 déficience intellectuelle type Birk-Barel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907201000172110 syndrome de déficience intellectuelle, hypotonie, dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929451000172111 déficience intellectuelle type Birk-Barel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411191001000113 Birk-Barel-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability Birk-Barel type Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability Birk-Barel type Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability Birk-Barel type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability Birk-Barel type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability Birk-Barel type Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability Birk-Barel type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability Birk-Barel type Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability Birk-Barel type Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability Birk-Barel type Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intellectual disability Birk-Barel type Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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