722376008: Autosomal recessive popliteal pterygium syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive popliteal pterygium syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)

\Disease\Disorder of joint region\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive popliteal pterygium syndrome (disorder)
\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\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Popliteal pterygium syndrome\Autosomal recessive popliteal pterygium syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Autosomal recessive popliteal pterygium syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331740018 Autosomal recessive popliteal pterygium syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331741019 Autosomal recessive popliteal pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331742014 Bartsocas Papas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331743016 Lethal popliteal pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402892015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402893013 Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	Popliteal pterygium syndrome	true	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Autosomal recessive popliteal pterygium syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Congenital webbing	false	Inferred relationship	Some	5
Autosomal recessive popliteal pterygium syndrome (disorder)	Finding site	Popliteal region structure	false	Inferred relationship	Some	5
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Autosomal recessive popliteal pterygium syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Autosomal recessive popliteal pterygium syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive popliteal pterygium syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive popliteal pterygium syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Congenital webbing	true	Inferred relationship	Some	2
Autosomal recessive popliteal pterygium syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Autosomal recessive popliteal pterygium syndrome (disorder)	Finding site	Popliteal region structure	true	Inferred relationship	Some	2
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3331740018	Autosomal recessive popliteal pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331741019	Autosomal recessive popliteal pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331742014	Bartsocas Papas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331743016	Lethal popliteal pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402892015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402893013	Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core