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

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
3331740018	Autosomal recessive popliteal pterygium syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character case insensitive (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
3331744010	A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported.	en	Definition	Active	Entire term case sensitive (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
3449891001000112	Bartsocas-Papas-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5806381000241114	syndrome autosomique récessif des ptérygiums poplités	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5806381000241114	syndrome autosomique récessif des ptérygiums poplités	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449891001000112	Bartsocas-Papas-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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