719256004: syndroom van pterygium colli, verstandelijke beperking en misvorming van digiti (aandoening)

• 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\Soft tissue lesion\Lesion of skin AND/OR subcutaneous 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)\Lesion of skin AND/OR subcutaneous 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)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\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)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\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\Soft tissue lesion\Lesion of skin AND/OR subcutaneous 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)\Lesion of skin AND/OR subcutaneous 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
6114851000146113	syndroom van Khalifa-Graham	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7808941000146117	syndroom van pterygium colli, verstandelijke beperking en misvorming van digiti	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7808951000146119	syndroom van pterygium colli, mentale retardatie en misvorming van digiti	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7808961000146116	syndroom van pterygium colli, verstandelijke handicap en misvorming van digiti	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7808971000146110	syndroom van pterygium colli, verstandelijke beperking en misvorming van digiti (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3315710019	This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and 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

This concept is not in any reference sets

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