764957003: King Denborough syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\King Denborough syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\King Denborough syndrome

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

\Hereditary disorder of musculoskeletal system\King Denborough syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\King Denborough syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\King Denborough syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\King Denborough syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\King Denborough syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\King Denborough syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\King Denborough syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\King Denborough syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\King Denborough syndrome
\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\King Denborough syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\King Denborough syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\King Denborough syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\King Denborough syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\King Denborough syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\King Denborough syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\King Denborough syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3655766014 King Denborough syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3655767017 King Denborough syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3655768010 Koussef Nichols syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
King Denborough syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
King Denborough syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
King Denborough syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
King Denborough syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
King Denborough syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
King Denborough syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
King Denborough syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
King Denborough syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
King Denborough syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
King Denborough syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
King Denborough syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
King Denborough syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
King Denborough syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
King Denborough syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
King Denborough syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3655766014	King Denborough syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3655767017	King Denborough syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3655768010	Koussef Nichols syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module