763773007: Macrocephaly and developmental delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Macrocephaly and developmental delay syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly and developmental delay syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrocephaly and developmental delay syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Macrocephaly and developmental delay syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Macrocephaly and developmental delay syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly and developmental delay syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly and developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Macrocephaly and developmental delay syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly and developmental delay syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly and developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay 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

3643793019 Macrocephaly and developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3643794013 Macrocephaly and developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Macrocephaly and developmental delay syndrome	Is a	Macrocephaly	false	Inferred relationship	Existential restriction modifier
Macrocephaly and developmental delay syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Macrocephaly and developmental delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Macrocephaly and developmental delay syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Macrocephaly and developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly and developmental delay syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly and developmental delay syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	2
Macrocephaly and developmental delay syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	2
Macrocephaly and developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly and developmental delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly and developmental delay syndrome	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Macrocephaly and developmental delay syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Existential restriction modifier
Macrocephaly and developmental delay syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	3
Macrocephaly and developmental delay syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Macrocephaly and developmental delay syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly and developmental delay syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Macrocephaly and developmental delay syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Macrocephaly and developmental delay syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Macrocephaly and developmental delay syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3643793019	Macrocephaly and developmental delay syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643794013	Macrocephaly and developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module