66783006: Popliteal pterygium syndrome (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee (disorder)\Popliteal pterygium syndrome

\Disease\Disorder of joint region\Disorder of knee (disorder)\Popliteal pterygium syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome

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

110941019 Popliteal pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

806434014 Popliteal pterygium syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

959691000172118 syndrome des ptérygiums poplités fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3452351001000117 Popliteales Pterygium-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Popliteal pterygium syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Popliteal pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Popliteal pterygium syndrome	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Some
Popliteal pterygium syndrome	Is a	Disorder of knee (disorder)	true	Inferred relationship	Some
Popliteal pterygium syndrome	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	1
Popliteal pterygium syndrome	Associated morphology	Congenital webbing	false	Inferred relationship	Some	1
Popliteal pterygium syndrome	Finding site	Popliteal region structure	false	Inferred relationship	Some	1
Popliteal pterygium syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Popliteal pterygium syndrome	Is a	Congenital abnormality of lower limb and pelvic girdle (disorder)	false	Inferred relationship	Some
Popliteal pterygium syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Some	1
Popliteal pterygium syndrome	Finding site	Popliteal region structure	true	Inferred relationship	Some	1
Popliteal pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Popliteal pterygium syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Popliteal pterygium syndrome	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	2
Popliteal pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Popliteal pterygium syndrome	Associated morphology	Congenital webbing	false	Inferred relationship	Some	3
Popliteal pterygium syndrome	Finding site	Popliteal region structure	false	Inferred relationship	Some	3
Popliteal pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Popliteal pterygium syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	Is a	True	Popliteal pterygium syndrome	Inferred relationship	Some
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	Is a	True	Popliteal pterygium syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
110941019	Popliteal pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
806434014	Popliteal pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
959691000172118	syndrome des ptérygiums poplités	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452351001000117	Popliteales Pterygium-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module