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40159009: Congenital macrostomia (disorder)

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

\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Congenital macrostomia
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Oral lesion\Congenital macrostomia
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Congenital macrostomia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Oral lesion\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth (disorder)\Congenital macrostomia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\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 (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Oral lesion\Congenital macrostomia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of head (disorder)\Disease of mouth\Oral lesion\Congenital macrostomia
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital macrostomia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth (disorder)\Congenital macrostomia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth (disorder)\Congenital macrostomia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital macrostomia	Is a	Congenital anomaly of mouth (disorder)	true	Inferred relationship	Some
Congenital macrostomia	Is a	Congenital abnormality of oral cavity	false	Inferred relationship	Some
Congenital macrostomia	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	kongenit manglende sammenvoksning	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Jaw region structure	false	Inferred relationship	Some
Congenital macrostomia	Finding site	Tongue structure	false	Inferred relationship	Some
Congenital macrostomia	Finding site	Esophagus, stomach, and duodenum.	false	Inferred relationship	Some	3
Congenital macrostomia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Face structure	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital macrostomia	Finding site	Upper aerodigestive tract structure	false	Inferred relationship	Some
Congenital macrostomia	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Congenital macrostomia	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital macrostomia	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital macrostomia	Associated morphology	kongenit vækstændring	false	Inferred relationship	Some	1
Congenital macrostomia	Due to	Congenital failure of fusion between maxillary and mandibular processes (disorder)	true	Inferred relationship	Some	2
Congenital macrostomia	Finding site	Upper digestive tract structure	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	kongenit hypertrofi	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	1
Congenital macrostomia	Associated morphology	kongenit hypertrofi	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	1
Congenital macrostomia	Associated morphology	kongenit forstørrelse	false	Inferred relationship	Some	2
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	kongenit forstørrelse	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	1
Congenital macrostomia	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital macrostomia	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital macrostomia	Is a	Orofacial cleft (disorder)	true	Inferred relationship	Some
Congenital macrostomia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Structure of oral region of face	true	Inferred relationship	Some	1
Congenital macrostomia	Is a	Oral lesion	true	Inferred relationship	Some
Congenital macrostomia	Is a	Lesion of face	true	Inferred relationship	Some
Congenital macrostomia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Bone structure of head	false	Inferred relationship	Some	3
Congenital macrostomia	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	3
Congenital macrostomia	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Congenital macrostomia	Occurrence	Congenital	false	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Unilateral kongenit macrostomia	Is a	False	Congenital macrostomia	Inferred relationship	Some
Bilateral congenital macrostomia	Is a	False	Congenital macrostomia	Inferred relationship	Some
Unilateral kongenit macrostomia	Associated finding	False	Congenital macrostomia	Inferred relationship	Some	1
Unilateral kongenit macrostomia	Associated finding	False	Congenital macrostomia	Inferred relationship	Some	1
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.	Is a	True	Congenital macrostomia	Inferred relationship	Some
Congenital macrostomia of right side of mouth (disorder)	Is a	True	Congenital macrostomia	Inferred relationship	Some
Congenital macrostomia of left side of mouth (disorder)	Is a	True	Congenital macrostomia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
63758017	Congenital macrostomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63759013	Macrostomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776748015	Congenital macrostomia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1975491000005119	kongenit macrostomia	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)