732954002: Osteopenia, intellectual disability, sparse hair syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498434019	Osteopenia, intellectual disability, sparse hair syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498435018	Kaler Garrity Stern syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498436017	Osteopenia, intellectual disability, sparse hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499922012	A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	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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