429753001: syndroom van congenitale niet-progressieve myopathie met Möbius- en Robin-sequentie (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (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\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2688300012	Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2694575011	Congenital nonprogressive myopathy with Moebius and Robin sequences	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2695275018	Carey Fineman Ziter syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6610841000146118	Carey-Fineman-Ziter-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6610861000146117	syndroom van Carey-Fineman-Ziter	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8268421000146117	syndroom van congenitale niet-progressieve myopathie met Möbius- en Robin-sequentie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8268451000146114	syndroom van congenitale niet-progressieve myopathie met Moebius- en Robin-sequentie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8268471000146118	syndroom van congenitale niet-progressieve myopathie met micrognathie, palatoschisis, glossoptosis en verlamming van nervus abducens en facialis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8268481000146116	syndroom van congenitale niet-progressieve myopathie met micrognathie, palatoschisis, glossoptosis en verlamming van hersenzenuw VI en VII	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8278461000146116	syndroom van congenitale niet-progressieve myopathie met Möbius- en Robin-sequentie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8278471000146110	syndroom van congenitale niet-progressieve myopathie met micrognathie, palatoschisis, glossoptose en verlamming van zesde en zevende hersenzenuw	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)