718575002: Ablepharon macrostomia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Ablepharon macrostomia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome

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

\Finding of head region\Orofacial cleft\Congenital macrostomia\Ablepharon macrostomia syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disorder of head\Disease of mouth\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Disorder of face\Lesion of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Ablepharon macrostomia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ablepharon macrostomia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Ablepharon macrostomia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ablepharon macrostomia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3312810019 Ablepharon macrostomia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3312816013 Ablepharon macrostomia syndrome en Synonym Active Case insensitive SNOMED CT core

3312817016 An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ablepharon macrostomia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Ablepharon macrostomia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ablepharon macrostomia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ablepharon macrostomia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ablepharon macrostomia syndrome	Finding site	Eyelid structure	true	Inferred relationship	Some	1
Ablepharon macrostomia syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Ablepharon macrostomia syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Ablepharon macrostomia syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Ablepharon macrostomia syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	4
Ablepharon macrostomia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Ablepharon macrostomia syndrome	Due to	Congenital failure of fusion between maxillary and mandibular processes	true	Inferred relationship	Some	3
Ablepharon macrostomia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Is a	Ablepharon	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Is a	Congenital macrostomia	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Ablepharon macrostomia syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	3
Ablepharon macrostomia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Ablepharon macrostomia syndrome	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	3
Ablepharon macrostomia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	4
Ablepharon macrostomia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Ablepharon macrostomia syndrome	Finding site	Eyelid structure	false	Inferred relationship	Some	4
Ablepharon macrostomia syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Ablepharon macrostomia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ablepharon macrostomia syndrome	Finding site	Structure of oral region of face	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312810019	Ablepharon macrostomia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312816013	Ablepharon macrostomia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3312817016	An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.	en	Definition	Active	Case sensitive	SNOMED CT core