1222710008: Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

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

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

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

\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Disorder of skeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5048625019 Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5048626018 Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5048627010 Au Kline syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Is a	Disorder of skeletal system	true	Inferred relationship	Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
5048625019	Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5048626018	Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048627010	Au Kline syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module