313426007: Kabuki make-up syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Kabuki make-up 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\Kabuki make-up syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Kabuki make-up syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Kabuki make-up syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Kabuki make-up syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Kabuki make-up syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Kabuki make-up syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Kabuki make-up syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Kabuki make-up syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

457316019 Kabuki make-up syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

710191012 Kabuki make-up syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kabuki make-up syndrome	Is a	Multisystem disorder K-L	false	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Kabuki make-up syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Kabuki make-up syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Kabuki make-up syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Kabuki make-up syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Kabuki make-up syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Kabuki make-up syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
457316019	Kabuki make-up syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
710191012	Kabuki make-up syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module