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773281008: Thakker Donnai syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Thakker Donnai syndrome

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

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thakker Donnai syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Thakker Donnai syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thakker Donnai syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thakker Donnai syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Thakker Donnai syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thakker Donnai syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Thakker Donnai syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Thakker Donnai syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thakker Donnai syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3722884012 Thakker Donnai syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3722885013 Thakker Donnai syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3722886014 Facial dysmorphism, multiple structural anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thakker Donnai syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Thakker Donnai syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Thakker Donnai syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Thakker Donnai syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Thakker Donnai syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Thakker Donnai syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Thakker Donnai 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
3722884012	Thakker Donnai syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3722885013	Thakker Donnai syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3722886014	Facial dysmorphism, multiple structural anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module