782884005: Pontine tegmental cap dysplasia (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia

\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia

\Finding of head region\Pontine tegmental cap dysplasia

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pontine tegmental cap dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pontine tegmental cap dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Pontine tegmental cap dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756547016 Pontine tegmental cap dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756548014 Pontine tegmental cap dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756549018 PTCD - pontine tegmental cap dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756550018 A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14490261000172118 PTCD - pontine tegmental cap dysplasia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

14490271000172110 dysplasie du tegmentum pontique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4299631000172118 pontiene tegmentale kap-dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4299641000172113 pontine tegmental cap dysplasia nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pontine tegmental cap dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pontine tegmental cap dysplasia	Is a	Dysgenesis of the brainstem	true	Inferred relationship	Some
Pontine tegmental cap dysplasia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Pontine tegmental cap dysplasia	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Pontine tegmental cap dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Pontine tegmental cap dysplasia	Finding site	Structure of tegmental portion of pons	true	Inferred relationship	Some	1
Pontine tegmental cap dysplasia	Is a	Finding of head region	true	Inferred relationship	Some

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
3756547016	Pontine tegmental cap dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756548014	Pontine tegmental cap dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756549018	PTCD - pontine tegmental cap dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756550018	A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14490261000172118	PTCD - pontine tegmental cap dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
14490271000172110	dysplasie du tegmentum pontique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4299631000172118	pontiene tegmentale kap-dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4299641000172113	pontine tegmental cap dysplasia	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)