720856002: Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\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 anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with ectrodactyly and macular dystrophy 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

3322306013 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322307016 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322308014 EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322309018 EEM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402506019 A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402507011 A rare ectodermal dysplasia syndrome characterised by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. 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
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Ectrodactyly	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Hereditary macular dystrophy	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Macula lutea structure	false	Inferred relationship	Some	5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Entire digit	false	Inferred relationship	Some	7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Entire digit	true	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Congenital anomaly of macula	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Macula lutea structure	true	Inferred relationship	Some	3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Adactyly	false	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322306013	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322307016	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322308014	EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322309018	EEM syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402506019	A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402507011	A rare ectodermal dysplasia syndrome characterised by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core