719256004: Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Finding of neck region\Disorder of neck (disorder)\...
• \Lesion of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly 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\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pterygium colli with intellectual disability and digital anomaly 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\Neck webbing\Pterygium colli with intellectual disability and digital anomaly 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 facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly 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\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly 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\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly 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\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of neck (disorder)\Lesion of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of neck (disorder)\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of neck (disorder)\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly 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
3315704019	Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315705018	Pterygium colli with intellectual disability and digital anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315706017	Khalifa Graham syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402031012	A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402032017	A rare disorder characterised by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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