763722004: Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hypotonia, speech impairment, severe cognitive delay syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome

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

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome

\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hypotonia, speech impairment, severe cognitive delay syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hypotonia, speech impairment, severe cognitive delay syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hypotonia, speech impairment, severe cognitive delay syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hypotonia, speech impairment, severe cognitive delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Hypotonia, speech impairment, severe cognitive delay syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643494012 Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3643495013 Hypotonia, speech impairment, severe cognitive delay syndrome en Synonym Active Case insensitive SNOMED CT core

3780952015 IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome en Synonym Active Case sensitive SNOMED CT core

3643496014 A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Hypotonia, speech impairment, severe cognitive delay syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Hypotonia, speech impairment, severe cognitive delay syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Hypotonia, speech impairment, severe cognitive delay syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Degenerative brain disorder	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypotonia, speech impairment, severe cognitive delay syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Hypotonia, speech impairment, severe cognitive delay syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Hypotonia, speech impairment, severe cognitive delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypotonia, speech impairment, severe cognitive delay syndrome	Finding site	Brain tissue structure	true	Inferred relationship	Some	1
Hypotonia, speech impairment, severe cognitive delay syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643494012	Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643495013	Hypotonia, speech impairment, severe cognitive delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3780952015	IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3643496014	A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	en	Definition	Active	Case sensitive	SNOMED CT core