FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.22-SNAPSHOT | FHIR Version n/a User: [n/a]

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\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\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\Congenital macrostomia

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia
\Disease\Fetal and/or neonatal disorder\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
\Disease\Fetal and/or neonatal 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
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\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\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\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\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\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\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\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\Congenital macrostomia
\Disease\Developmental 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

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

Descriptions:

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

4521441000241115 macrostomie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital macrostomia	Is a	Congenital anomaly of mouth	true	Inferred relationship	Some
Congenital macrostomia	Is a	Congenital abnormality of oral cavity	false	Inferred relationship	Some
Congenital macrostomia	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	Congenital failure of fusion	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	anomalie congénitale	false	Inferred relationship	Some	2
Congenital macrostomia	Finding site	Upper aerodigestive tract structure	false	Inferred relationship	Some
Congenital macrostomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Congenital macrostomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital macrostomia	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital macrostomia	Associated morphology	Congenital growth alteration	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	hypertrophie congénitale	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	1
Congenital macrostomia	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Some	1
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	1
Congenital macrostomia	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	2
Congenital macrostomia	Finding site	Oral cavity structure	false	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	Congenital enlargement	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 congenital macrostomia	Is a	False	Congenital macrostomia	Inferred relationship	Some
Bilateral congenital macrostomia	Is a	False	Congenital macrostomia	Inferred relationship	Some
Unilateral congenital macrostomia	Associated finding	False	Congenital macrostomia	Inferred relationship	Some	1
Unilateral congenital 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

Back to Start

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
4521441000241115	macrostomie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module