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398206004: 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
1766125014 Congenital deformity of face (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
175011000077114 malformation congénitale du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
175011000077114 malformation congénitale du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

26 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Congenital deformity of face (disorder) Is a Congenital deformity (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of face (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of face (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of face (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of face (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of face (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of face (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deformity of face (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deformity of face (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deformity of face (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of face (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of face (disorder) Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital deformity of forehead (disorder) Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of nose (disorder) Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of wall of nasal sinus Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hemifacial myohyperplasia Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microblepharia (disorder) Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proboscis lateralis Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital entropion Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Midline fissured, notched and cleft nose Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital squashed or bent nose Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachygnathism Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ectropion (disorder) Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of nasal septum Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ectropion of lip Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Congenital blepharophimosis Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
fissure nasale congénitale Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis syndrome Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome (disorder) Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a False Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital combined bony and soft tissue deformity of orbit (disorder) Is a True Congenital deformity of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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