717913006: Blepharonasofacial malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Blepharonasofacial malformation syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Blepharonasofacial malformation syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharonasofacial malformation syndrome (disorder)

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3324387019 Blepharonasofacial malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324388012 Pashayan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324389016 Pashayan Prozansky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324390013 A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

888591000172112 syndrome blépharo-naso-facial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1008471000172112 syndrome de Pashayan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharonasofacial malformation syndrome (disorder)	Is a	Hereditary disease	false	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Is a	Congenital anomaly of nose	true	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Blepharonasofacial malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharonasofacial malformation syndrome (disorder)	Finding site	Nasal structure	true	Inferred relationship	Some	1
Blepharonasofacial malformation syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Blepharonasofacial malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Blepharonasofacial malformation syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Blepharonasofacial malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Blepharonasofacial malformation syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Blepharonasofacial malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324386011	Blepharonasofacial malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324387019	Blepharonasofacial malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324388012	Pashayan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324389016	Pashayan Prozansky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324390013	A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
888591000172112	syndrome blépharo-naso-facial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008471000172112	syndrome de Pashayan	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module