722113001: Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330754017 Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330755016 Osteoporosis and oculocutaneous hypopigmentation syndrome en Synonym Active Case insensitive SNOMED CT core

3330756015 Hernandez Fragoso syndrome en Synonym Active Case sensitive SNOMED CT core

3330757012 Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteoporosis and oculocutaneous hypopigmentation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Congenital oculocutaneous hypopigmentation	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	5
Osteoporosis and oculocutaneous hypopigmentation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Osteoporosis and oculocutaneous hypopigmentation syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome	Finding site	Bone structure	false	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome	Finding site	Eye structure	false	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
Osteoporosis and oculocutaneous hypopigmentation syndrome	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330754017	Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330755016	Osteoporosis and oculocutaneous hypopigmentation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330756015	Hernandez Fragoso syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330757012	Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core