715484003: Ophthalmomandibulomelic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ophthalmomandibulomelic dysplasia
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Congenital corneal dystrophy\Ophthalmomandibulomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ophthalmomandibulomelic dysplasia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302784019 Ophthalmomandibulomelic dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3302785018 Ophthalmomandibulomelic dysplasia en Synonym Active Case insensitive SNOMED CT core

3302786017 Pillay syndrome en Synonym Active Case sensitive SNOMED CT core

3302787014 OMM (ophthalmomandibulomelic) syndrome en Synonym Active Case sensitive SNOMED CT core

3302788016 Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ophthalmomandibulomelic dysplasia	Finding site	Face structure	true	Inferred relationship	Some	2
Ophthalmomandibulomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ophthalmomandibulomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Ophthalmomandibulomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ophthalmomandibulomelic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Ophthalmomandibulomelic dysplasia	Is a	Congenital anomaly of cornea	false	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Ophthalmomandibulomelic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Ophthalmomandibulomelic dysplasia	Finding site	Corneal structure	true	Inferred relationship	Some	1
Ophthalmomandibulomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia	Is a	Congenital corneal dystrophy	true	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Ophthalmomandibulomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	5
Ophthalmomandibulomelic dysplasia	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia	Is a	Hereditary corneal dystrophy	true	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia	Finding site	Face structure	false	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia	Finding site	Limb structure	true	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia	Associated morphology	Dystrophy	false	Inferred relationship	Some	4
Ophthalmomandibulomelic dysplasia	Finding site	Corneal structure	false	Inferred relationship	Some	4
Ophthalmomandibulomelic dysplasia	Finding site	Limb structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302784019	Ophthalmomandibulomelic dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302785018	Ophthalmomandibulomelic dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3302786017	Pillay syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302787014	OMM (ophthalmomandibulomelic) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302788016	Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.	en	Definition	Active	Case sensitive	SNOMED CT core