718575002: Ablepharon macrostomia syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Orofacial cleft\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Oral lesion (disorder)\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\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\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Oral lesion (disorder)\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\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\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome
\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\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia (disorder)\Ablepharon macrostomia syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome

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

\Eye / vision finding\Eyelid finding (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 (disorder)\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 (disorder)\Ablepharon macrostomia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome

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

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

3312810019 Ablepharon macrostomia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312816013 Ablepharon macrostomia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401772017 An extremely rare multiple congenital malformation syndrome characterized by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401773010 An extremely rare multiple congenital malformation syndrome characterised by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3312810019 Ablepharon macrostomia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3312810019 Ablepharon macrostomia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312816013 Ablepharon macrostomia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3312816013 Ablepharon macrostomia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5401772017 An extremely rare multiple congenital malformation syndrome characterized by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401773010 An extremely rare multiple congenital malformation syndrome characterised by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440151001000119 Ablepharon-Makrostomie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

872451000172112 syndrome d'ablépharie-macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

872451000172112 syndrome d'ablépharie-macrostomie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3440151001000119 Ablepharon-Makrostomie-Syndrom de 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
Ablepharon macrostomia syndrome	Due to	Congenital failure of fusion between maxillary and mandibular processes (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ablepharon macrostomia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Is a	Ablepharon	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Is a	Congenital macrostomia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ablepharon macrostomia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ablepharon macrostomia syndrome	Finding site	Structure of internal part of mouth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ablepharon macrostomia syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ablepharon macrostomia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ablepharon macrostomia syndrome	Finding site	Eyelid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ablepharon macrostomia syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ablepharon macrostomia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ablepharon macrostomia syndrome	Finding site	Structure of oral region of face	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ablepharon macrostomia syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ablepharon macrostomia syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ablepharon macrostomia syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ablepharon macrostomia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ablepharon macrostomia syndrome	Finding site	Eyelid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ablepharon macrostomia syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ablepharon macrostomia syndrome	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ablepharon macrostomia syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ablepharon macrostomia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312810019	Ablepharon macrostomia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312816013	Ablepharon macrostomia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401772017	An extremely rare multiple congenital malformation syndrome characterized by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401773010	An extremely rare multiple congenital malformation syndrome characterised by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312810019	Ablepharon macrostomia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3312810019	Ablepharon macrostomia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312816013	Ablepharon macrostomia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3312816013	Ablepharon macrostomia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401772017	An extremely rare multiple congenital malformation syndrome characterized by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401773010	An extremely rare multiple congenital malformation syndrome characterised by 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 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440151001000119	Ablepharon-Makrostomie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
872451000172112	syndrome d'ablépharie-macrostomie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
872451000172112	syndrome d'ablépharie-macrostomie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440151001000119	Ablepharon-Makrostomie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module