773750003: syndroom van plat aangezicht, microstomie en ooranomalie (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\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\Flat face, microstomia, ear anomaly syndrome (disorder)
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\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\Flat face, microstomia, ear anomaly syndrome (disorder)
\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\Flat face, microstomia, ear anomaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Flat face, microstomia, ear anomaly syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)

\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly 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\Flat face, microstomia, ear anomaly 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\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly 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\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Microstomia	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome (disorder)	Finding site	Mouth region structure	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Congenital malformation of ear	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	3

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
3726270013	Simosa Penchaszadeh Bustos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726271012	Blepharophimosis, telecanthus, microstomia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726272017	Flat face, microstomia, ear anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726273010	Flat face, microstomia, ear anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726274016	Simosa craniofacial syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6594191000146118	craniofaciaal syndroom van Simosa	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723871000146119	syndroom van plat gelaat, microstomie en ooranomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723881000146117	syndroom van blefarofimose, telecanthus en microstomie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6841191000146112	syndroom van Simosa-Penchaszadeh-Bustos	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12486691000146110	syndroom van plat aangezicht, microstomie en ooranomalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12660001000146111	syndroom van plat aangezicht, microstomie en ooranomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3726276019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core