763815000: Oculoauricular syndrome Schorderet type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Oculoauricular syndrome Schorderet type
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Oculoauricular syndrome Schorderet type
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculoauricular syndrome Schorderet type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Oculoauricular syndrome Schorderet type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculoauricular syndrome Schorderet type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculoauricular syndrome Schorderet type
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Oculoauricular syndrome Schorderet type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Developmental disorder\Developmental hereditary disorder\Oculoauricular syndrome Schorderet type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Oculoauricular syndrome Schorderet type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Oculoauricular syndrome Schorderet type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Oculoauricular syndrome Schorderet type

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644087014 Oculoauricular syndrome Schorderet type en Synonym Active Initial character case insensitive SNOMED CT core

3644088016 Oculoauricular syndrome Schorderet type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3644093018 A rare genetic developmental defect during embryogenesis with characteristics of various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus and lobule aplasia). There is evidence the disease is caused by homozygous mutation in the HMX1 gene on chromosome 4p16. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculoauricular syndrome Schorderet type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculoauricular syndrome Schorderet type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Oculoauricular syndrome Schorderet type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	Congenital abnormality of external ear	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Oculoauricular syndrome Schorderet type	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculoauricular syndrome Schorderet type	Finding site	External ear structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644087014	Oculoauricular syndrome Schorderet type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3644088016	Oculoauricular syndrome Schorderet type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3644093018	A rare genetic developmental defect during embryogenesis with characteristics of various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus and lobule aplasia). There is evidence the disease is caused by homozygous mutation in the HMX1 gene on chromosome 4p16.	en	Definition	Active	Case sensitive	SNOMED CT core