715429006: Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Chronic disease of genitourinary system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism 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\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Disorder of anterior segment of eye\Disorder of lens\Cataract\...

\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Muscle finding\Myopathy\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Chronic disease of genitourinary system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Nonsenile cataract\Infantile cataract\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Chronic disease\Chronic disease of genitourinary system\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302588018 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3303035013 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome en Synonym Active Case insensitive SNOMED CT core

3302594014 This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3302595010 This syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission 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
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Chronic disease of genitourinary system	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	Infancy	true	Inferred relationship	Some	4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Clinical course	Progressive	true	Inferred relationship	Some	3
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Hypogonadism	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Congenital muscular dystrophy	false	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Is a	Infantile cataract	true	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	6
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	4
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1

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
3302588018	Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303035013	Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302594014	This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3302595010	This syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core