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1172889005: Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4636347017 Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636348010 Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636349019 Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399422019 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399423012 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636347017 Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636348010 Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636349019 Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636350019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth) and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly and hypoplastic toenails) a single palmar crease, lower limb hypertonia, joint hypermobility along with ocular and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399422019 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399423012 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435181001000118 Gaumenanomalien-weiter Zahnabstand-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6447021000241114 syndrome d'anomalies palatines, diastèmes multiples, dysmorphie faciale et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6447031000241111 syndrome d'anomalies du palais, diastèmes multiples, dysmorphie faciale et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6447021000241114 syndrome d'anomalies palatines, diastèmes multiples, dysmorphie faciale et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6447031000241111 syndrome d'anomalies du palais, diastèmes multiples, dysmorphie faciale et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435181001000118 Gaumenanomalien-weiter Zahnabstand-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Malformation of teeth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Congenital anomaly of palate true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Diastema of teeth (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Interprets Spacing of teeth true Inferred relationship Existential restriction modifier (core metadata concept) 4
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Finding site Dentition true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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