1172628002: TBC1 domain containing kinase-related intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\TBCK-related intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\TBCK-related intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TBCK-related intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\TBCK-related intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\TBCK-related intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\TBCK-related intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\TBCK-related intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\TBCK-related intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TBCK-related intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4634855017 TBCK-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634856016 TBC1 domain containing kinase-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634857013 TBC1 domain containing kinase-related intellectual disability syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634858015 A rare genetic syndromic intellectual disability with characteristics of usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphism (including plagiocephaly/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5345461000052114 syndrom med TBCK-relaterad intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
TBCK-related intellectual disability syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
TBCK-related intellectual disability syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
TBCK-related intellectual disability syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
TBCK-related intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4634855017	TBCK-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634856016	TBC1 domain containing kinase-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634857013	TBC1 domain containing kinase-related intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634858015	A rare genetic syndromic intellectual disability with characteristics of usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphism (including plagiocephaly/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5345461000052114	syndrom med TBCK-relaterad intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)