717913006: Blepharonasofacial malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Blepharonasofacial malformation syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation 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\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose AND/OR nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose AND/OR nasopharynx\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose AND/OR nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose AND/OR nasopharynx\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Blepharonasofacial malformation syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Blepharonasofacial malformation syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Blepharonasofacial malformation syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharonasofacial malformation syndrome
\Disease\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Disorder of nose AND/OR nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Disorder of nose AND/OR nasopharynx\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharonasofacial malformation syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Blepharonasofacial malformation syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Blepharonasofacial malformation syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharonasofacial malformation syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Blepharonasofacial malformation 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

3324386011 Blepharonasofacial malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3324387019 Blepharonasofacial malformation syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3324388012 Pashayan syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3324389016 Pashayan Prozansky syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharonasofacial malformation syndrome	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Is a	Congenital anomaly of nose	true	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Blepharonasofacial malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Blepharonasofacial malformation syndrome	Finding site	Nasal structure	true	Inferred relationship	Existential restriction modifier	1
Blepharonasofacial malformation syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Blepharonasofacial malformation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Blepharonasofacial malformation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Blepharonasofacial malformation syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Blepharonasofacial malformation syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Blepharonasofacial malformation syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Blepharonasofacial malformation syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets