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22841008: focomelie (aandoening)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phocomelia	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Phocomelia	Occurrence	Congenital	false	Inferred relationship	Some
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some
Phocomelia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Phocomelia	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Phocomelia	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Some
Phocomelia	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Is a	Congenital malformation	false	Inferred relationship	Some
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Is a	Congenital complete absence of limb	false	Inferred relationship	Some
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	1
Phocomelia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Phocomelia	Occurrence	Congenital	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	2
Phocomelia	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Phocomelia	Finding site	Limb structure	false	Inferred relationship	Some	3
Phocomelia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Phocomelia	Occurrence	Congenital	false	Inferred relationship	Some	3
Phocomelia	Associated morphology	Abnormal shortening	false	Inferred relationship	Some	3
Phocomelia	Is a	Partial congenital absence of limb	true	Inferred relationship	Some
Phocomelia	Finding site	Extremity part	false	Inferred relationship	Some	2
Phocomelia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Phocomelia	Occurrence	Congenital	true	Inferred relationship	Some	1
Phocomelia	Finding site	Extremity part	true	Inferred relationship	Some	1
Phocomelia	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adactylia	Is a	False	Phocomelia	Inferred relationship	Some
hemimelie (aandoening)	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of all toes	Is a	False	Phocomelia	Inferred relationship	Some
Reduction deformity of upper limb	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of finger	Is a	False	Phocomelia	Inferred relationship	Some
Congenital complete absence of limb	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of patella	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of fibula	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of tibia	Is a	False	Phocomelia	Inferred relationship	Some
Ectrodactyly	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of calcaneus	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of carpal bone	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of forepaw phalanx	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of hindpaw phalanx	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of metacarpal bone	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of metatarsal bone	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of talus	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of tarsal bone	Is a	False	Phocomelia	Inferred relationship	Some
Congenital absence of paw	Is a	False	Phocomelia	Inferred relationship	Some
Bilateral congenital absence of feet	Is a	False	Phocomelia	Inferred relationship	Some
Agenesis of clavicle	Is a	False	Phocomelia	Inferred relationship	Some
Phocomelia of unspecified limb	Is a	False	Phocomelia	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	True	Phocomelia	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	True	Phocomelia	Inferred relationship	Some
Phocomelia Schinzel type (disorder)	Is a	True	Phocomelia	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	True	Phocomelia	Inferred relationship	Some
Phocomelia of lower limb	Is a	True	Phocomelia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
38342014	Phocomelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38344010	Phocomelic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38345011	Congenital absence of proximal portion of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752295016	Phocomelia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
342801000146117	focomelie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
342811000146115	focomelie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8715201000146112	Aangeboren afwijking, waarbij armen en/of benen ontbreken en waarbij handen, voeten of delen daarvan direct aan de schouder of heup vastzitten.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)