1187212004: Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\...

\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\General finding of soft tissue\Poor muscle tone (finding)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

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

\Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region (disorder)\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Hereditary disorder of the visual system (disorder)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Disorder of eye movements\Strabismus\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Muscle finding\Muscle tone - finding\Poor muscle tone (finding)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Muscle finding\Muscle tone - finding\Decreased muscle tone (finding)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Musculoskeletal finding\Poor muscle tone (finding)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
\Disease\Developmental disorder\Developmental delay\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

4672737014 Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4672738016 Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4672739012 A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672740014 A rare genetic non-dystrophic congenital myopathy disorder characterised by neonatal-onset of severe generalised hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fibre size. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5319051000052110 syndrom med svår hypotoni, försenad psykomotorisk utveckling, strabism och kardiell septumdefekt sv Synonym (core metadata concept) Active Entire term 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
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Developmental delay	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Poor muscle tone (finding)	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Congenital septal defect of heart	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Congenital strabismus	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Interprets	Muscle tone	true	Inferred relationship	Some	4
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Finding site	Eye region structure (body structure)	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Finding site	Cardiac septum structure	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Associated morphology	Defect	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	Decreased muscle tone (finding)	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4672737014	Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672738016	Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672739012	A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672740014	A rare genetic non-dystrophic congenital myopathy disorder characterised by neonatal-onset of severe generalised hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fibre size.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5319051000052110	syndrom med svår hypotoni, försenad psykomotorisk utveckling, strabism och kardiell septumdefekt	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)