766870005: Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of ear (disorder)\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662960019	Finucane Kurtz Scott syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662961015	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662962010	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404681018	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404682013	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662960019	Finucane Kurtz Scott syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662961015	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662962010	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664260010	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3664261014	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404681018	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404682013	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385011001000111	Epiphysäre Dysplasie mit Hörverlust und Dysmorphien	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6095861000241117	syndrome de Finucane-Kurtz-Scott	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6095871000241113	syndrome de dysplasie épiphysaire, surdité et dysmorphie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6095861000241117	syndrome de Finucane-Kurtz-Scott	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6095871000241113	syndrome de dysplasie épiphysaire, surdité et dysmorphie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385011001000111	Epiphysäre Dysplasie mit Hörverlust und Dysmorphien	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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