722122000: Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Overgrowth, macrocephaly, facial dysmorphism syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Overgrowth, macrocephaly, facial dysmorphism syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Overgrowth, macrocephaly, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Overgrowth, macrocephaly, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3330795019 Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3330796018 Overgrowth, macrocephaly, facial dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3330797010 Ring finger protein 135 related overgrowth syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3330798017 RNF135 (ring finger protein 135) related overgrowth syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Overgrowth, macrocephaly, facial dysmorphism syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome	Is a	Macrocephaly	false	Inferred relationship	Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	3
Overgrowth, macrocephaly, facial dysmorphism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Overgrowth, macrocephaly, facial dysmorphism syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	3
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Overgrowth, macrocephaly, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Overgrowth, macrocephaly, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Overgrowth, macrocephaly, facial dysmorphism syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Overgrowth, macrocephaly, facial dysmorphism syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	3

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
3330795019	Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3330796018	Overgrowth, macrocephaly, facial dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3330797010	Ring finger protein 135 related overgrowth syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3330798017	RNF135 (ring finger protein 135) related overgrowth syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module