720418008: Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (disorder)
• \Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocraniofacial dysostosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (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\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrocraniofacial dysostosis (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrocraniofacial dysostosis (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
3320697013	Acrocraniofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320698015	Acrocraniofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320699011	Kaplan Plauchu Fitch syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402324018	A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402325017	A very rare acrofacial dysostosis characterised by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320697013	Acrocraniofacial dysostosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320697013	Acrocraniofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320698015	Acrocraniofacial dysostosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320698015	Acrocraniofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320699011	Kaplan Plauchu Fitch syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320700012	A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402324018	A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402325017	A very rare acrofacial dysostosis characterised by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3394521001000110	Dysostose, akro-kranio-faziale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
921751000172119	dysostose acro-cranio-faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996581000172117	syndrome de Kaplan-Plauchu-Fitch	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
921751000172119	dysostose acro-cranio-faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996581000172117	syndrome de Kaplan-Plauchu-Fitch	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394521001000110	Dysostose, akro-kranio-faziale	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)

Back to Start