722113001: syndrome d'ostéoporose-hypopigmentation oculocutanée (trouble)

SNOMED CT Concept\constatation clinique\...

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

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation 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)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation 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\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation 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\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation 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\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation 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\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation 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)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation 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\Osteoporosis and oculocutaneous hypopigmentation 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\Osteoporosis and oculocutaneous hypopigmentation 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\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation 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\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Osteoporosis and oculocutaneous hypopigmentation syndrome (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

3330754017 Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330755016 Osteoporosis and oculocutaneous hypopigmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330756015 Hernandez Fragoso syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

758291000241112 syndrome d'ostéoporose-hypopigmentation oculocutanée (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

891401000172114 OOCHS - osteoporosis, oculocutaneous hypopigmentation syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

956191000172118 syndrome d'ostéoporose-hypopigmentation oculocutanée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	interprète (attribut)	ostéodensitométrie	true	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Congenital oculocutaneous hypopigmentation	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Dysplasia with decreased bone density	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
3330754017	Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330755016	Osteoporosis and oculocutaneous hypopigmentation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330756015	Hernandez Fragoso syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758291000241112	syndrome d'ostéoporose-hypopigmentation oculocutanée (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
891401000172114	OOCHS - osteoporosis, oculocutaneous hypopigmentation syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
956191000172118	syndrome d'ostéoporose-hypopigmentation oculocutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core