88456007: Congenital partial absence (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
medfödd partiell avsaknad	Is a	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleft hand - central	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Partial agenesis of corpus callosum	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Partial aphalangia of upper limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
ameli av arm	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Phocomelia of upper limb NOS	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Hypoplasia of corpus callosum (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	4
Phocomelia of upper limb (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Complete phocomelia of upper limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
hemimeli av arm	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Partial aphalangia of lower limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Cleft hand - first cleft	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Cleft hand with polydactyly	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Congenital amputation of upper limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
rudimentär arm	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Congenital cleft hand	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Transverse deficiency lower limb - hip level	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Transverse deficiency lower limb - through femur	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
hemimeli i ben	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Transverse deficiency lower limb - knee level	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
hemimeli i ben	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
hemimeli	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Transverse deficiency of lower limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Congenital absence of part of upper limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Congenital absence of part of upper arm	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Duane-radial ray syndrome (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	7
kongenital hypodonti av flera tänder i samband med systemsjukdom	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Hypodontia and nail dysgenesis	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	5
Partial congenital absence of teeth	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Familial hypodontia	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	5
kongenital hypodonti av flera tänder utan samband med systemsjukdom	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Transverse deficiency lower limb - hip level	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Partial congenital absence of limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Transverse deficiency of lower limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Transverse deficiency of arm, upper arm level - long	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Transverse deficiency lower limb - through femur	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Transverse deficiency of arm, upper arm level - short	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Transverse deficiency lower limb - knee level	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
hemimeli	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Transverse deficiency lower limb - metatarsal level	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Congenital partial absence of alimentary tract	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
hemimeli av arm	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Partial radial absence	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
hemimeli i ben	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Transverse deficiency lower limb - through tibia/fibula	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
transversell dysmeli av arm på underarmsnivå	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Duane-radial ray syndrome (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	1
Transverse deficiency of upper limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Acephalostomia	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Incomplete congenital absence of thigh AND leg	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Incomplete congenital absence of thigh AND leg	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	4
Partial aphalangia of lower limb	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Congenital tibial deficiency type III	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Congenital tibial deficiency type II	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis in Johanson-Blizzard syndrome (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Adams-Oliver syndrome	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Congenital absence of skin on scalp with epidermal naevi	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Congenital absence of skin on scalp	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	3
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	False	medfödd partiell avsaknad	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
146668017	Congenital partial absence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
146669013	Partial agenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
831143011	Congenital partial absence (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1298411000052119	medfödd partiell avsaknad	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)