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398206004: Congenital deformity of face (disorder)

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

\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1766125014 Congenital deformity of face (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1777758015 Congenital deformity of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deformity of face (disorder)	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital deformity of face (disorder)	Is a	Congenital deformity	true	Inferred relationship	Some
Congenital deformity of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital deformity of face (disorder)	Associated morphology	Congenital deformity	false	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Associated morphology	Congenital deformity	false	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital deformity of face (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Congenital deformity of face (disorder)	Associated morphology	Congenital deformity	false	Inferred relationship	Some	2
Congenital deformity of face (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital deformity of face (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital deformity of forehead	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital deformity of nose	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Hemifacial myohyperplasia	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Microblepharia	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Proboscis lateralis (disorder)	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital entropion	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Midline fissured, notched and cleft nose	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital squashed or bent nose	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Brachygnathism	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital ectropion	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital hypoplasia of nasal septum	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Choanal atresia with radial ray hypoplasia	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital ectropion of lip	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital blepharophimosis	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital fissure of nose	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Blepharophimosis syndrome	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)	Is a	False	Congenital deformity of face (disorder)	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Is a	True	Congenital deformity of face (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1766125014	Congenital deformity of face (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1777758015	Congenital deformity of face	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core